Waldenström Macroglobulinemia: What Are Supportive Treatments?

This is the tenth part of our series about the condition based on our patient booklet “Fast Facts for Patients: Waldenström Macroglobulinemia”. This blog posts focuses on supportive treatments for Waldenström macroglobulinemia (WM).


Supportive treatments are designed to counteract some of the symptoms of the disease and the side effects of treatment. In WM, supportive treatments include antibiotics to prevent infections (which may occur during chemotherapy cycles), blood transfusions, iron infusions, and plasmapheresis and intravenous immunoglobulin (IVIG).

Iron Replacement

Iron is crucial for many bodily processes, including the production of red blood cells. In some people with WM, iron is not used correctly in the body. This can lead to anemia, even if there is not a large number of LPL cells in the bone marrow.

Taking iron in tablet form (oral) or in the form of a drip into the vein (intravenous) may be helpful in these circumstances. Receiving iron replacement can boost the hemoglobin and improve energy levels, delaying the need to start chemotherapy. It is important that other causes of iron deficiency (such as bleeding) are excluded first, though. Intravenous iron given once or twice a week apart is generally more effective than taking iron orally.

Blood Transfusions

Your blood counts can decrease as a result of the WM itself or because chemotherapy is affecting your bone marrow as a side effect. If the counts fall to levels that cause troublesome symptoms, the medical team will consider giving you red blood cell or platelet transfusions. Transfusions are given through a cannula (a thin flexible tube) into a vein; this can be done either as a day case or as an inpatient.

Growth Factors

Having a low white blood cell count increases the risk of infection. White blood cells cannot be given by transfusion. Instead, growth factors can be used to boost the number of white blood cells. Growth factors are given by injection under the skin (subcutaneous) – the number of injections needed depends on individual circumstances.

Plasmapheresis or Plasma Exchange

Plasmapheresis can help with the effects of hyperviscosity which develops in up to 3 in 10 people with WM. It causes symptoms that may include nosebleeds, blurring or loss of vision, dizziness, headaches, drowsiness, poor concentration, confusion and shortness of breath.

During plasma exchange, you are hooked up to a sophisticated machine via two of your veins. Your blood leaves your body from one vein, is processed by the closed system in the machine and returned to your bloodstream through the other vein. The outpatient process typically takes 3–4 hours and is carried out in a specialist unit.

Your clinical team will work out how many plasma exchanges you need, and how often, before you start to have your main treatment.

Plasmapheresis / plasma exchange 

Prevention of Infection

If you are receiving chemotherapy you may need to take medications to help prevent bacterial, viral and fungal infections as your immune system may be temporarily weakened.

This may involve taking an antibiotic, antiviral or antifungal medication. Prescribing of these varies in different centers. Sometimes a short-term antibiotic is needed, for example before an invasive dental or surgical procedure.


It is important to get all the vaccines that your doctor recommends.

You should be offered pneumococcal vaccination in the form of pneumococcal conjugate vaccine followed by pneumococcal polysaccharide vaccine at least 2 months later (this is the guidance in the UK – it may differ in other countries). If you develop recurrent infections, you may benefit from a wider range of vaccines against other bacteria that cause pneumonia and meningitis.

Live vaccines against polio, herpes zoster (shingles) and yellow fever are not recommended. However, there is a non-live vaccine against herpes zoster that is approved for use in immunocompromised patients. Ask your doctor about this.

Individuals with blood cancer can be vaccinated against COVID-19 as the vaccines do not pose a risk of infection. If you are receiving chemotherapy or immunosuppression, talk to your hospital doctor about when to get vaccinated. You may respond less well to vaccines if your immune system is diminished by your WM or treatment.

Intravenous Immunoglobulin

If you are less able to produce antibodies in response to infection because of your WM or your treatment, you may experience recurrent infections, such as chest infections, sinus infections or bladder infections. If you develop back-to-back infections and require repeated courses of antibiotics or admissions to hospital, then ask your doctor to check your immunoglobulin levels.

Your immunoglobulin levels give a measure of your capacity to produce antibodies. If they are low, in particular if your IgG level is less than 4 g/L, you may benefit from IVIG infusions, which can be given monthly into a vein.

IVIG consists of antibodies extracted from blood donations that have gone through manufacturing steps to the risk of transmitting an infection.

IVIG is a precious resource that is in short supply, so your case for receiving it is likely to be assessed by a panel of experts. Certain conditions need to be met, such as vaccination against bacterial infections, as mentioned above. Once IVIG is started, its use is limited to the smallest effective dose, frequency and duration.


Information based on Fast Facts for Patients: Waldenström Macroglobulinemia (Karger, 2022).

Waldenström Macroglobulinemia: Further Types of Treatment (Part 2)

This is the ninth part of our series about the condition based on our patient booklet “Fast Facts for Patients: Waldenström Macroglobulinemia”. This is the second of two blog posts on further types of treatment for Waldenström macroglobulinemia (WM).

BCL-2 Inhibitors

B-cell lymphoma-2 (BCL-2) is a protein that is often overproduced in blood cancers. It can help cancer cells overcome the normal controls on growth and division. Venetoclax is an example of a BCL-2 inhibitor. It is not readily available outside of clinical trials.

Checkpoint Inhibitors

Nivolumab and pembrolizumab are medications that block the effects of a protein called PD-1. They help restore the body’s natural capacity to fight cancer cells. These medications are called immune checkpoint inhibitors. They are not available for the treatment of WM outside of clinical trials.

Cell Therapies

When WM comes back some people may have treatment using their own stem cells. This is called autologous stem cell transplant (ASCT). Stem cells from a donor can also be transplanted. This is called allogeneic stem cell transplant (allo-SCT).

Stem cell transplants involve a specific type of stem cell called hematopoietic (blood-producing) cells, which are found in the bone marrow. All the different types of blood cell develop from these cells.

The stem cells can be collected from a donor or the person themselves – the processes are described in the next sections.

There are potentially serious side effects associated with these treatments. They are not suitable for everyone and are not done routinely. Doctors consider a person’s general health and fitness before recommending them. For some people with other health problems, particularly older people, the risks of carrying out a stem cell transplant are too high to recommend this approach.

Stem cell transplants are only performed after chemotherapy. The chemotherapy puts the disease into a remission so that healthy cells can grow.

If stem cell transplant is an option, it would normally be carried out after a maximum of two previous treatments, as this is when it gives the best results.

High-Dose Chemotherapy and ASCT

A person having an ASCT will have some of their own stem cells collected and stored so they can be put back into their body as rescue cells after chemotherapy.

Before the cells are collected, therapy is given to reduce the number of abnormal cells in the bone marrow. This chemotherapy is typically given orally (tablets) and/or by injection and/or intravenously (into a vein) in cycles over several months.

Once the cells have been collected, high-dose chemotherapy is given to kill any remaining abnormal cells.

Then the person’s stem cells are returned to the body by a drip into a vein, like a blood transfusion. The cells make their way to the bone marrow, where they form new blood cells. This takes 7–10 days. During this period, the person is particularly vulnerable to infection. Because of this, they need inpatient treatment and monitoring.

This treatment does not cure WM, but it can lead to a long-lasting remission. In other words, the disease can stay at a very low level for quite a long time (typically a number of years) before further treatment is needed.

High-dose chemotherapy and autologous stem cell transplant (ASCT) 

Allogeneic SCT

In this kind of transplant, the stem cells come from another person and are used as an immune therapy against the WM.

Once a donor match is secured, high-dose chemotherapy is given and the donor’s previously collected stem cells are infused into the bloodstream via a cannula. Within 2–3 weeks, donor blood cells appear in the person’s bone marrow.

There is an ongoing risk that the donor immune system may react against the person’s healthy tissues as well as the WM cells. This is called graft-versus-host disease, and it can cause a variety of complications after the transplant.

While this form of transplant can offer the possibility of cure for some people with WM, it is more hazardous than ASCT. The risks and benefits need to be weighed very carefully.


Information based on Fast Facts for Patients: Waldenström Macroglobulinemia (Karger, 2022).

Waldenström Macroglobulinemia: Further Types of Treatment (Part 1)

This is the eighth part of our series about the condition based on our patient booklet “Fast Facts for Patients: Waldenström Macroglobulinemia”. This is the first of two blog posts on further types of treatment for Waldenström macroglobulinemia (WM).

Monoclonal Antibodies

Monoclonal antibodies recognize, target and stick to proteins on the surface of cancer cells. They can stimulate the body’s immune system to destroy these cells.

Rituximab is used to treat B-cell lymphomas like WM. It recognizes the protein CD20, which is found on the surface of B cells. Rituximab is given by drip as an infusion directly into a vein (intravenous) or as an injection under the skin (subcutaneous).

  • Rituximab may be given with chemotherapy and/or steroids and the combination then has an “R” added (for example, bendamustine and rituximab [BR]; see below).
  • It may cause allergic reactions at the time of the infusion (and afterward, but this is rare). The first infusion is given over 6 hours to try to limit this reaction. Subsequent infusions can usually be given over 60–90 minutes.
  • If the starting IgM level is higher than 30g/L, giving rituximab may result in a steep rise or flare of IgM, triggering high blood viscosity that may last for several weeks. For this reason, the rituximab may be delayed for 1 or 2 cycles of the chemotherapy schedule.

Combination Treatment

Most people with symptoms will receive a combination of rituximab plus chemotherapy. The exact regimen depends on different factors, including your age and fitness. The most commonly used combinations are:

  • BR: intravenous bendamustine on days 1 and 2 of each cycle, with rituximab also given on day 1. The treatment is repeated every 28 days (a cycle), 4–6 times.
  • DRC: intravenous dexamethasone on day 1, intravenous rituximab on day 1, and oral cyclophosphamide twice daily for the first 5 days (days 1–5). This is repeated every 21 days (a cycle) for a total of 6 courses.
  • Single-agent rituximab: intravenous rituximab every week, for 4 doses. This may be repeated after 3 months (called an extended schedule).
  • Other combinations of chemotherapy agents may be used to induce a remission if you are being prepared for a stem cell transplant. Such combinations can be used to reduce the amount of WM in the body and to “mobilize” stem cells, which can then be used for the transplant.

Proteasome Inhibitors

These treatments aim to disrupt the cancer’s growth and survival by targeting chemical pathways within LPL cells.

  • Bortezomib is given by injection under the skin (subcutaneously) every week for 4 weeks, which may or may not be followed by a week’s break. It is important to highlight any symptoms of peripheral neuropathy that you have if you are taking this medication although given subcutaneously the risk is much lower than originally reported.
  • Carfilzomib is given by injection into a vein (intravenously). It appears to be well tolerated. It is not widely available outside clinical trials.
  • Ixazomib is taken by mouth (orally). It is under evaluation in combination with dexamethasone and rituximab. It is not yet available outside clinical trials.

Bruton Tyrosine Kinase Inhibitors

These medications are designed to target and inhibit an enzyme in cells called Bruton tyrosine kinase (BTK). Blocking the effects of BTK reduces the survival of LPL cells. BTK inhibitors are taken by mouth (orally) on a daily basis for as long as they are effective and tolerated.


Ibrutinib is the first BTK inhibitor to be developed and approved for WM based on its effectiveness. It has been in clinical use for the longest time so has the longest follow-up of all the BTK inhibitors in WM. It is taken once daily in 28-day cycles. It is given for as long as it works and is tolerated. It can be used on its own or with rituximab.

Ibrutinib stops LPL cells from interacting with their surroundings so that they do not thrive. It has a number of “off-target effects” which means that it may inadvertently adversely affect other tissues, causing side effects. These side effects include fatigue, low blood counts, disturbance of the heart rhythm (atrial fibrillation), high blood pressure, increased risk of bleeding, increased infections, aching joints, skin rashes, mouth ulcers and diarrhea. In most cases, side effects can be managed by pausing and reintroducing the treatment or reducing the dose.

You may be given additional medications to control your heart rate or blood pressure so that you can continue ibrutinib treatment. Doctors have gained a lot of experience of managing side effects that may develop over time so that you can continue your treatment.


Zanubrutinib is a “next-generation” BTK inhibitor that has recently been approved for WM in the UK, USA and Europe. Zanubrutinib is more selective in its targeting actions in the body. It is taken twice daily as long as it is effective and tolerated.

In a head-to-head comparison trial, zanubrutinib showed a higher percentage of complete responses (CR) and very good partial responses (VGPR) (than ibrutinib. Continued follow-up of patients in clinical trials will determine whether this higher rate of deeper responses will translate into a longer-lasting remission.

Trials have also shown that side effects such as atrial fibrillation, infections, diarrhea and high blood pressure happen less often with zanubrutinib.

Other BTK Inhibitors

Other BTK inhibitors being tested in clinical trials are acalabrutinib, tirabrutinib and pirtobrutinib.

Class Effects of BTK Inhibitors

Class effects of BTK inhibitors (side effects of all BTK inhibitors) that are important to know when using these treatments.

  • Increased risk of infections. It is therefore common for preventative medication (prophylaxis) to be used at the same time. This typically includes an antiviral drug such as aciclovir (acyclovir in the USA) and an anti-pneumonia drug called cotrimoxazole. They are given continuously with the BTK inhibitor. If there is an additional risk of fungal infections (for example, if you are also taking steroids), then antifungal medication may also be used.
  • Increased risk of bruising and bleeding. This means that you will need to pause your BTK inhibitor therapy for 3–5 days before any invasive procedure (such as dental extractions or operations). The exact number of days will depend on the procedure. You will be able to restart your BTK inhibitor 3–5 days after the procedure when all bleeding has stopped. Your clinical team will guide you on this.
  • Interactions with other medications and foods. You may need to avoid certain medications or foods, or take some drugs with caution, when taking BTK inhibitors. It is important to read the information leaflet carefully and check with your clinical team about any medications, supplements or foods you should avoid.



Information based on Fast Facts for Patients: Waldenström Macroglobulinemia

Waldenström Macroglobulinemia: Types of Treatment – Chemotherapy

This is the seventh part of our series about the condition based on our patient booklet “Fast Facts for Patients: Waldenström Macroglobulinemia”. This blog post deals with the treatment of Waldenström macroglobulinemia (WM) by means of chemotherapy.

Chemotherapy-Based Treatment

Chemotherapy drugs destroy cancer cells, usually by stopping them from growing and dividing.

Combining different treatments can improve their effectiveness. If you are treated with just one chemotherapy drug, any side effects are likely to be mild. But you may have more side effects if you have a combination of drugs.

Most treatments for WM are given in an outpatient clinic and you would not be admitted to hospital unless complications develop. Your doctor or specialist nurse can tell you what to expect. You should always tell them if you have any side effects and talk about your concerns. Very effective medicines are available to help with side effects.

Chemotherapy-based treatment for WM is given for 4–6 months and then stops. Sometimes the condition seems slow to respond. But most people do start to improve given adequate time, and it is important to avoid switching to a new therapy too soon.

One of the most common side effects of chemotherapy is being more prone to infections. Always let your doctor or nurse know if you have any signs of an infection, such as a cough, fever, shivering or shaking, so it can be treated straight away.

The most commonly used chemotherapies for WM are listed below. They can be given as the first treatment or later for re-treatment.


Cyclophosphamide may be taken as tablets or given into a vein (intravenously). It is usually given in combination with other agents, such as dexamethasone (a steroid) and rituximab (a monoclonal antibody; in the DRC regimen. Or it can be given as part of the CHOP regimen, which is made up of cyclophosphamide, hydroxydaunorubicin, vincristine (or oncovin) and prednisolone.


Bendamustine is given as a drip into a vein. It is usually given on days 1 and 2 of a 4-week cycle in combination with rituximab, which is given only on day 1 of the cycle. Bendamustine can be used in people who may need a stem cell transplant in the future. It is given for up to 6 cycles. Antibiotics are given with bendamustine to help avoid infections. Any blood transfusions need to be irradiated (your clinical team can explain this in more detail).


Chlorambucil is taken as a tablet and usually given for 7–10 consecutive days per month for 6–8 months. It may be given with a steroid called prednisolone and with rituximab. Chlorambucil should be avoided if a stem cell transplant is being considered as it makes it difficult to collect stem cells later. It is generally avoided in younger people.


Steroids are often used as part of the treatment as they can make chemotherapy more effective. They can be given as tablets or an injection into a vein (intravenously). Side effects include fluid retention, weight gain, restlessness, agitation and sleep disturbance, and a tendency to high blood sugar and high blood pressure. These effects are temporary and usually stop when treatment finishes.

Other Noteworthy Chemotherapy Drugs

There are some chemotherapy drugs that are still widely used in the treatment of B-cell lymphomas, but less so in WM because of adverse effects. These include fludarabine and cladribine, which are no longer recommended because of a low risk of developing second cancers. Better alternatives to these drugs are used instead. However, these drugs may be used to treat late-stage disease that has relapsed many times to try to induce a remission when no other options are available.

A chemotherapy treatment known as vincristine should not be used in WM because it tends to cause peripheral neuropathy. It is, however, included in the CHOP chemotherapy regimen, which is generally reserved for the treatment of transformed disease.


Information based on Fast Facts for Patients: Waldenström Macroglobulinemia (Karger, 2022).

Waldenström Macroglobulinemia: Active Monitoring, Starting Treatment, and Follow-Up

This is the sixth part of our series about the condition based on our patient booklet “Fast Facts for Patients: Waldenström Macroglobulinemia”. This blog post focuses on active monitoring, and when to start treatment, and follow-up for Waldenström macroglobulinemia (WM).

Active Monitoring

Treatment might not be started straight away after diagnosis.

If the doctor’s assessment is that treatment is not needed, you will have regular check-ups and blood tests to look for signs of progression.

If you have no symptoms, you will typically be seen in the clinic every 3–6 months for clinical review and blood tests.

Doctors use this approach because:

  • there is no evidence that treating the condition before symptoms develop is advantageous.
  • treatments may cause side effects and suppress the immune system, so they are only recommended when benefit outweighs risk.

It can be hard to wait for symptoms to develop or for things to become worse before anything is done. It can make you feel anxious and unable to enjoy your good health while living with a cancer diagnosis. If you feel like this, it is important to talk to your clinical team and family and friends, so that you can work out a way to cope. Some charities may offer counseling or support groups, too.

It is important to report new symptoms as they occur, even if your appointment is not due.

Starting Treatment

Your doctor will consider starting treatment if:

  • you start having symptoms, such as progressive fatigue, weight loss, swellings or infections.
  • the level of IgM in your blood is increasing rapidly or hyperviscosity develops.
  • your blood count changes – for example, you might develop progressively lower levels of red blood cells, white blood cells or platelets.
  • complications of abnormal IgM develop, such as a progressive neuropathy, cryoglobulinemia, amyloidosis or CAD.

Which Treatment?

Your medical team will recommend the most suitable treatments based on:

  • your test results, including which gene mutations you have.
  • your age and general health.
  • your symptoms – for example, how severe they are and whether you have neuropathy.

Treatment aims to keep you well (and improve your quality of life) with the fewest possible side effects.

Chemotherapy has been the mainstay of treatment for many years. But as a result of research and clinical trials, many new therapies are becoming available – these are called biological or targeted therapies. The best way to use novel therapies remains the focus of research.

Blood transfusions, growth factor injections and plasma exchange may also be used to improve symptoms. These are called supportive treatments.

How Do I Know If Treatment Has Worked?

If treatment is working well, your blood counts should improve and the IgM paraprotein level should fall. This is generally accompanied by an improvement in wellbeing, though you may feel some side effects from treatment.

Improvements usually happen over 4–12 weeks. You may feel better on some days than on others, but keep going with the treatment. If you feel you want to stop treatment, talk to your specialist first.

Chemotherapy is given for a fixed time period. Once an adequate response is achieved, the treatment is stopped and you will return to active monitoring.

Oral treatment, such as a BTK inhibitor, is continued as long as it is working and the side effects do not outweigh the benefits.

Response Criteria

Your healthcare team may use some terms to describe how treatment is working.

  • Complete response or CR: the IgM paraprotein has disappeared. There is no evidence of abnormality in the bone marrow and CT scans look normal. WM symptoms have passed. A second test is needed 6 weeks later to check.
  • Very good partial response or VGPR: the IgM paraprotein has reduced by 90% (or more) and there are no new signs or symptoms of active disease.
  • Partial response or PR: the IgM paraprotein has reduced by half (or more) and abnormal swellings have reduced in size by at least half (on examination or scan). No new symptoms have developed.
  • Minor response or MR: the IgM paraprotein has reduced by at least one-quarter but less than one-half. No new symptoms have developed.
  • Stable disease or SD: the IgM paraprotein has remained stable, no new symptoms have developed and swellings have not enlarged.
  • Progressive disease or PD: the IgM paraprotein has increased and symptoms are worsening.

Follow-Up after Treatment

With current treatments, it is not possible to eradicate every abnormal cell from the body. Because of this, WM is likely to come back (relapse) at some point after treatment. All individuals need to be followed up regularly in the outpatient department, even when in remission.

The aim of follow-up appointments is to check whether the disease has returned and plan the next steps to avoid loss of wellbeing. At each follow-up visit, your doctor will take blood to check the level of IgM paraprotein and blood counts, as well as checking for symptoms and assessing your general wellbeing.

Your doctor will discuss having another bone marrow biopsy or CT scan if:

  • symptoms develop – these could be the same as you had previously or they may be different ones.
  • symptoms develop – these could be the same as you had previously or they may be different ones.
  • the blood counts drop.

If you have any new symptoms between appointments, contact your medical team promptly to let them know. They may want to bring your next appointment forward.


Information based on Fast Facts for Patients: Waldenström Macroglobulinemia (Karger

Waldenström Macroglobulinemia: Common Feelings When Diagnosed and How You Can Help Yourself

This is the fifth part of our series about the condition based on our patient booklet “Fast Facts for Patients: Waldenström Macroglobulinemia”. This blog post deals with common feelings when diagnosed with Waldenström macroglobulinemia (WM) and how you can help yourself.

Common Feelings When Diagnosed

For most people, it is a shock to be diagnosed with a very rare disease with an unpronounceable name. The prospect of having a life-limiting condition can be frightening.

Diagnosis may be a relief, though, particularly if you have had a lot of symptoms. Treatment can start to improve wellbeing.

If you do not need treatment right away, the lack of action after receiving a cancer diagnosis can be disconcerting if an active monitoring approach is recommended.

Anyone who receives a cancer diagnosis typically feels overwhelmed and powerless as they grapple with many tests and a new vocabulary surrounding the condition. WM is a complex disease, with many strands and possible consequences.

Connecting With Others

It is very helpful to find sources of reliable information and support. You can do this yourself or a family member or friend can do it. There are many sources of information available online. It is important to look at accurate and up-to-date information.

Waldenström macroglobulinemia: useful resources

Helping Yourself

Get a Clear Picture

It is recommended that you and/or a family member or friend find out what to expect after diagnosis, depending on whether you are being actively monitored, treated or monitored after receiving treatment. It is advisable to seek answers to your questions from your clinical team and keep records of your discussions, medications and treatments.

Make sure you understand why you are receiving different medications (are they part of your chemotherapy or supportive medications?). From time to time, ask your doctors to review whether you need to continue your medications, especially those that were added during your WM treatment.

Don’t feel shy about asking questions to help you stay safe and well as you live with your WM. If necessary, seek a second opinion.

Minimize the Risk of Infections

It is important to remain vigilant about possible infections that you develop or encounter. What you do about them depends on whether you are on or off treatment, whether you have had previous treatment and, if so, how long ago. All these factors can influence the state of your immune system. This is even more crucial now in the COVID-19 era.

It is important to remain vigilant about possible infections that you develop or encounter. What you do about them depends on whether you are on or off treatment, whether you have had previous treatment and, if so, how long ago. All these factors can influence the state of your immune system. This is even more crucial now in the COVID-19 era.

Taking sensible precautions to prevent infection, such as mask-wearing, hand-washing and avoiding crowded indoor spaces, is worthwhile.

Maintain a Good All-Round Diet

There is no evidence that special diets are of benefit for WM. In general, a varied and wide-ranging diet is the best way to obtain the nutrients you need. At times, you may need to adapt your diet. Chemotherapy may reduce the number of white blood cells called neutrophils, so it may be helpful to stick to a “neutropenic” diet during chemotherapy. When your blood cell counts are normal such a diet is not needed. Consult with your clinical team if you are unsure.

Certain vitamin deficiencies are common in WM, for reasons unknown. These vitamins (B12, folate, vitamin D) are easy to replace. If you are developing anemia that cannot be accounted for by a buildup of LPL cells, it is worth checking your vitamin B12 and folate levels. If they are low, they can be replaced by tablets or injections. Another correctable cause of anemia in WM is iron deficiency. This can be remedied by intravenous infusions of iron.

It is also worth checking your vitamin D level yearly to ensure you have enough, as it is important in so many physiological functions, including bone health. It is one of the few vitamins worth taking regularly (unless you have a specific reason to avoid it). A reasonable dose is 1000 IU/day.

Any diet or supplement that recommends amounts that are in excess of the recommended daily allowance (RDA) should be avoided unless they are prescribed for a specific reason by a doctor. Such excesses can affect WM in ways we cannot predict, and if you are on chemotherapy they can interfere with the way the treatment works.

Keep Up the Exercise

Regular physical activity is beneficial for overall health. If you are living with WM, there are even more reasons to maintain your fitness to help keep your heart and lung function at good levels to tackle fatigue, stave off infections and cope better with chemotherapy treatments, if and when they are needed.

Moderate, regular exercise that is suitable for you is the best thing to aim for. This will vary from person to person. A daily walk is better than nothing at all. Apart from improving physiological fitness, it raises the spirits and, if outdoors, connects you with nature.

It is equally important not to overstretch yourself, especially during or after therapy, until you feel up to it. Having “good” and “bad” days is a common experience in WM and may have physical and psychological/mood origins.

If you have a medical condition, such as heart disease, high blood pressure or diabetes, it is important to seek advice from your doctor if you are unsure.

Peripheral neuropathy can impede your ability to exercise, for example if you have numbness or loss of balance or weakness in your limbs. Expert review is recommended to determine the nature and cause of the neuropathy. Appropriate treatment should be given if needed. There are many medications to help with the management of pain. Discuss your situation with your doctor, and seek out physiotherapy and occupational therapy as needed.

Rest When You Need to

Fatigue is a very common symptom in WM and has many causes. Furthermore, these causes can change over time, depending on your general health, the medication you are receiving and the status of your disease. It is important to share your concerns with your clinical team so that the matter can be addressed as effectively as possible.

There are times when the best thing to do is rest. If this is the case, it is important to give yourself the time and space to do so. There is lots of information about management of fatigue. Make sure you look for guidance from reputable sources.


Information based on Fast Facts for Patients: Waldenström Macroglobulinemia (Karger, 2022).

Breast Cancer Awareness Month 2022: An Interview with Abeda Steenkamp (CANSA)

October is Breast Cancer Awareness Month, which is an annual campaign to raise awareness about the impact of breast cancer. On this occasion we turned to the Cancer Association of South Africa (CANSA) to learn more about their mission and vision. We spoke with Abeda Steenkamp about stigma and taboos surrounding cancer that she sees in South Africa. Furthermore, she shares her own experiences as a breast cancer patient, discusses the important role of education and support, and gives an insight into her work and tasks as a Service Coordinator for CANSA.

Note: This video has been made possible by the contribution from Mylan Pharmaceuticals Private Limited, a Viatris Company. Viatris did not have any influence on the content. The opinions expressed are those of the speaker.

Video Interview


Podcast Interview

Listen to our podcast Episode 5 – Breast Cancer Awareness with Abeda Steenkamp from CANSA.

Waldenström Macroglobulinemia: Who Is in My Care Team and Which Tests Will I Need to Have?

This is the fourth part of our series about the condition based on our patient booklet “Fast Facts for Patients: Waldenström Macroglobulinemia”. This blog post details who is in your care team as well as which tests will you need to have.

Who Is in My Care Team?

Your care team will be led by a hematologist-oncologist, a doctor with expertise in diagnosing and treating diseases and cancers of the blood. Some hematologists treat many different kinds of blood diseases, while others specialize in blood and bone marrow cancers. If ever you feel unsure of what is being offered or why, think about getting a second opinion. It is important to feel comfortable with the options that have been recommended and to have a good understanding of what is going to happen.

Depending on your symptoms, you may be seen by other specialist doctors, such as an ophthalmologist (eyes), neurologist (nerves) and cardiologist (heart specialist).

The clinical team is also supported by:

  • pathologists, who analyze bone marrow and other tissue biopsies to confirm the diagnosis,
  • radiologists, who analyze scans of your body.

You may also have specialist nurses in your clinical team (in the UK, you will be allocated a clinical nurse specialist). They provide support for your health, emotional and social needs and have experience of overseeing chemotherapy and other treatments.

What Tests Will I Need to Have?

Your doctor will ask about your symptoms and general health, any medication you are taking and any allergies you have.

You will be examined to assess your overall health and to look for any signs of abnormal swellings or enlarged organs.

If the doctor is concerned about high blood viscosity, they may examine the back of your eyes (retinas) with an ophthalmoscope.

Examination of the back of the eyes (retinas) with an ophthalmoscope

They will also examine your skin for bruising and signs of color change when cold.

If you have symptoms of a neuropathy (nerve damage), the hematologist may carry out a brief neurological examination. You may also be referred to a neurologist for specialist assessment and may have electrical studies called nerve conduction tests.

Blood Tests

Blood samples will be taken for different tests.

  • Complete or full blood count: measures different types of cells in the blood.
  • Metabolic panel: measures different chemicals to assess the health of your kidneys, liver and bones.
  • Immunoglobulin tests: detect excessive production of immunoglobulin (Ig) and identify IgM paraprotein. They also measure levels of IgA and IgG as these are sometimes low in WM, making sinus and bronchial infections more likely.
  • Beta-2 microglobulin: used in scoring systems for prognosis and may help predict how you will respond to treatment.
  • Lactate dehydrogenase: also used in scoring systems for prognosis.
  • Serum or plasma viscosity: used if hyperviscosity is suspected. The viscosity of water is 1 centipoise (cp). Normal serum viscosity is 1.4–1.8 cp. Symptoms of hyperviscosity can appear with a serum viscosity as low as 3 cp, but they usually occur when it is above 4–5 cp.

Serum protein electrophoresis showing the amount of different proteins in the blood (normal blood vs. person with Waldenström macroglobulinemia)

Bone Marrow Biopsy

As WM is a disease of the bone marrow, it is essential to take a sample of the marrow to confirm that LPL cells are present, how many there are and how much normally functioning bone marrow remains. This procedure is called a bone marrow biopsy. The samples are usually taken from the back of your hip bone (pelvis).

Bone marrow biopsy

You will be given an injection of local anesthetic to numb the area. The doctor or nurse will then pass a needle through the skin into the bone and draw a small sample of liquid marrow into a syringe (bone marrow aspirate). After this, they will take a small core of marrow from the bone – this is called a trephine biopsy. Both samples are examined under a microscope.

The sample can be taken on the ward or in the outpatient department, and the procedure takes 15–20 minutes. You do not need to fast beforehand. It may be uncomfortable or briefly painful, but this should only last for a few seconds. You may be offered a mild sedative before the procedure or gas and air while having the procedure.

A small dressing or plaster is placed on the skin after the procedure, and you can move around straight afterward. Any tenderness usually settles in a day or two and you can take mild painkillers if you need to.

In the laboratory, a pathologist will look at the stained smear of bone marrow cells under the microscope. Liquid marrow is also extracted for flow cytometry, which sorts cell groups according to patterns of receptors on their surface.

It may take 7–10 days to get the results because of the processing involved. There may be information on genetic abnormalities, too. The presence of genetic changes may affect your response to treatment.


Computed Tomography (CT) Scan

X-ray cross-section images are taken as the body moves through the scanner. A computer combines these to produce detailed pictures. The process involves lying still for 30–45 minutes.

Computed tomography (CT) scan

You may be asked to fast for 4 hours before your appointment. Before the scan, you may be given a drink or an injection into your arm. This puts a contrast medium into your body, which allows areas to be seen more clearly. You may feel a hot sensation for a few minutes afterward. If you have kidney problems, you probably will not have contrast as it can affect the kidneys.

Positron Emission Tomography Combined with CT Scanning (PET-CT)

Glucose with a radioactive tracer is injected into a vein and a CT scan can follow the path it takes in the body. PET-CT can provide useful information if high-grade transformation is suspected. If you have diabetes, it is important that your blood sugar is well controlled at the time of the scan.

Magnetic Resonance Imaging (MRI)

A scan that uses strong magnetic fields and radio waves to produce 3D images of your internal organs. It may be performed to investigate Bing–Neel syndrome or peripheral neuropathy. You may be moved into the scanner head first or feet first, depending on the part of your body being scanned.


Information based on Fast Facts for Patients: Waldenström Macroglobulinemia (Karger, 2022).

Waldenström Macroglobulinemia: Possible Effects

This is the third part of our series about the condition based on our patient booklet “Fast Facts for Patients: Waldenström Macroglobulinemia”. This article addresses some of the possible effects of Waldenström macroglobulinemia (WM).


The effects of WM vary from person to person. You may experience some or none of these effects.

Effects of Waldenström macroglobulinemia

Anti-MAG Neuropathy

IgM paraproteins may mistakenly target tissues and organs in the body. In anti-MAG (myelin-associated glycoprotein) neuropathy, the IgM paraprotein damages the axons of nerves (neurons) or the myelin that insulates them. This can lead to numbness or tingling in the hands and feet or problems with balance if the nerve damage is in the limbs (peripheral neuropathy).

It is important to mention any of these symptoms to your doctor, especially if they are getting worse over time.

You may need tests to examine your nervous system in more detail: a scan of your brain or spinal cord, a lumbar puncture to look for signs of inflammation, nerve conduction studies to see how well your nerves are conducting electrical impulses or perhaps a nerve biopsy (under a local anesthetic).

Anti-MAG neuropathy

Hyperviscosity Syndrome

As the graph shows, once blood IgM paraprotein levels increase past a certain point, the blood becomes much thicker or more viscous. This is called hyperviscosity syndrome.

Hyperviscosity syndrome

Symptoms include bleeding from the nose and mouth, headaches, blurred or loss of vision and dizziness. These symptoms are more likely to occur if your IgM level is over 40 g/L. Your doctor will recommend treatment if you have symptoms.

A test for blood thickness (serum or plasma viscosity) can be done in specialist laboratories.

Bing–Neel Syndrome

Very occasionally, LPL cells build up in the central nervous system (CNS), resulting in Bing–Neel syndrome. The symptoms are varied, but may include headaches, seizures, weakness of the facial or limb muscles, double vision, personality change and memory loss. Special tests such as brain scans and sampling of the cerebrospinal fluid by a lumbar puncture are needed to identify the cells. This rare complication can be treated if recognized promptly but requires special treatments.

Cold Agglutinin Disease

Cold temperatures may trigger IgM to act as a bridge between red blood cells, causing them to stick together in the cooler parts of the body, such as the hands and feet, the tip of the nose and the ear lobes. This is called agglutination and the condition is called cold agglutinin disease (CAD).

The affected areas have poor blood circulation, especially when it is cold: color changes and ulcers may develop as the skin breaks down. CAD also results in the breakdown of red blood cells (hemolytic anemia) due to activation of a part of the immune system called complement. This can cause bouts of fatigue and breathlessness and may cause the urine to become very dark from time to time, especially when conditions are cooler.

Cold agglutinin disease


Cryoglobulinemia is different from CAD in that IgM molecules stick to each other when circulating in cooler parts of the body, such as the hands and feet, the tip of the nose or the ear lobes. This can cause poor circulation in these areas, color changes like Raynaud’s phenomenon or ulcers.

Cryoglobulinemia and Rynaud's phenomenon

A similar process can affect the joints, kidneys, skin and nerves, causing damage to these tissues. If you notice problematic cold intolerance, it is worth asking your doctor about cryoglobulinemia. Diagnosis requires a test in which the blood sample needs to be kept warm until it reaches the laboratory for analysis.


In amyloidosis, fragments of the IgM change and form an abnormal protein called AL amyloid. This can be deposited in various tissues and organs, causing them to function less well. The heart, spleen, lymph nodes, nerves, gastrointestinal tract, vocal cords and kidneys can be affected to varying degrees in different people.


Tell your doctor if you experience breathlessness, dizziness when standing up, low blood pressure, new intolerance of blood pressure medication, diarrhea, weight loss or symptoms of peripheral neuropathy (such as numbness, tingling or pain in your hands or feet).

AL amyloid usually builds up gradually, which often delays its detection. Tests may include blood tests to assess heart function (NT-proBNP test), urine tests to look for excess protein leakage (nephrotic syndrome), echocardiography (a type of ultrasound scan that looks at the heart and nearby blood vessels) and/or tissue biopsy (the tissue is then examined using a stain called Congo Red, which shows the build-up of amyloid deposits). In the UK, a SAP scan may be performed at the National Amyloidosis Centre in London. Serum amyloid P component (SAP) is a normal protein in the blood that binds to amyloid deposits.

Your doctor must suspect amyloidosis is a possible diagnosis for these tests to be carried out, so it is important to report the symptoms mentioned above and ask about amyloidosis.

Transformation to Aggressive Non-Hodgkin Lymphoma

In a small number of people, WM develops into an aggressive non-Hodgkin lymphoma in a process called high-grade transformation. Transformation means that LPL cells develop the biological characteristics of diffuse large B-cell lymphoma (DLBCL). This is usually accompanied by rapidly noticeable changes, such as new swellings, sweats and weight loss.

A tissue biopsy is needed to confirm transformation. Treatment requires intensive chemotherapy with or without stem cell transplantation or newer therapies.


Information based on Fast Facts for Patients: Waldenström Macroglobulinemia (Karger, 2022).

What Causes Waldenström Macroglobulinemia and How Will It Affect Me?

This is the second part of our series about the condition based on our patient booklet “Fast Facts for Patients: Waldenström Macroglobulinemia”. This blog post explains what causes Waldenström macroglobulinemia (WM) and how it will affect you.


What Causes Waldenström Macroglobulinemia?

Most people develop a condition called IgM monoclonal gammopathy of uncertain significance (IgM MGUS) before WM. At this early stage, there are very few LPL cells in the body, and they are often undetectable. But it is possible to detect an abnormal amount of IgM paraprotein. This may be picked up from a blood sample that has been taken for an unconnected reason. At this stage, people typically feel normal and have no symptoms.

IgM MGUS becomes more common as people get older, but its cause is unknown. About 2 in 100 people aged over 50 and 3 in 100 people aged over 70 have IgM MGUS.

The raised level of IgM paraprotein in IgM MGUS usually causes no symptoms, though people are monitored once or twice a year in case the level rises or symptoms develop. Sometimes an IgM MGUS level may cause inflammation or tissue damage, which will require further tests and treatment.

Over time (usually years), the monoclonal LPL cells may build up to result in WM, which is eventually diagnosed once symptoms develop, such as fatigue, weight loss, sweats, fevers, nerve damage (peripheral neuropathy) or infections (due to an under-functioning immune system).

Not everyone with IgM MGUS progresses to WM. For those who do, it typically takes years.

WM is not infectious and cannot be passed on to other people. But blood relatives in the person’s immediate family are slightly more likely to develop WM or another kind of B-cell lymphoma.


This many people will have developed Waldenström macroglobulinemia in the time shown from a group of 100 people with IgM monoclonal gammopathy of uncertain significance (IgM MGUS)


Genetic Mutations

Most people with WM (about 90%) have a mutation in the MYD88 gene in the DNA of the LPL cells. This mutation is not inherited from a parent. Instead, it happens inside the LPL cells. Identifying this mutation helps to confirm a diagnosis of WM and may predict how the disease will develop and respond to treatment (called the prognosis).


Changes in the MYD88 gene's instructions change the sequence of amino acids in the protein


About 40% of patients with WM have a mutation in the CXCR4 gene, which affects production of a different protein. Mutations in the CXCR4 gene are more varied and complicated, and therefore more difficult to analyze.

These gene mutations result in abnormal proteins that do not work properly in the body’s cells.

Everyone who is suspected of having WM ideally should be tested for these gene mutations, as they may affect treatment choices.

How Will Waldenström Macroglobulinemia Affect Me?

Symptoms vary from person to person depending on how the disease develops. Not everyone gets all of the symptoms. Even after diagnosis, you may not get any symptoms for many years.

Symptoms may develop because of:

  • disrupted production of normal blood cells
  • thickening of the blood because of high levels of IgM paraprotein, an abnormal immunoglobulin (antibody)
  • IgM paraproteins mistakenly targeting tissues and organs
  • the IgM becoming sticky or fragmented
  • the IgM coating nerve cells and causing damage (peripheral neuropathy).

Over time, LPL cells fill up the bone marrow or collect in the lymph nodes or the spleen (and, rarely, in other places in the body).

Effects of Having Fewer Healthy Blood Cells

Having fewer red blood cells leads to anemia, which can cause tiredness, weakness and breathlessness. This is linked with fatigue, an extreme form of tiredness that is the most common symptom of WM. A lack of white blood cells weakens the immune system, so you may tend to develop infections. A lack of platelets leads to a tendency to bruise or bleed easily, as platelets are important in blood clotting.

B Symptoms

Fevers, night sweats and weight loss may be a feature of later-stage WM. You might hear them referred to as B symptoms. They happen when the LPL cells build up to the extent that their metabolic activity becomes physically noticeable through these symptoms. Tell your doctor if you start to notice these symptoms – for example, if you need to change nightclothes regularly or you have lost a significant amount of weight. You may need to start treatment.

Swellings and Lumps

In about a quarter of patients with WM, lymph nodes and/or the spleen may enlarge; you might notice swollen glands. Rarely, a swollen spleen can be uncomfortable or painful.

LPL cells may collect in body cavities, causing soft tissue masses (lumps) or a buildup of fluid in the chest (pleural effusion). Rarely, the cells may build-up in the skeleton, causing bone pain. If these symptoms appear, the diagnosis is confirmed by taking scans and analyzing samples of tissue from a biopsy.


Information based on Fast Facts for Patients: Waldenström Macroglobulinemia (Karger, 2022).

What Is Waldenström Macroglobulinemia?

This is the first part of our series about the condition based on our patient booklet “Fast Facts for Patients: Waldenström Macroglobulinemia”. This blog post explains what Waldenström macroglobulinemia (WM) is and how it develops.


First, the Facts …

  1. Waldenström macroglobulinemia (shortened to WM) is a rare blood cancer.
  2. WM usually progresses slowly; some people do not show symptoms for several years after diagnosis.
  3. A person who does not have symptoms usually does not need treatment, but active monitoring is essential so that treatment can be started as soon as it is needed.
  4. Although there is no cure for WM, different treatment options can keep the disease under control for many years in a lot of people.
  5. Eventually, the treatments tend to lose their effect. New therapies are being tested in clinical trials across the world, with promising results.

What Is Waldenström Macroglobulinemia?

WM is a type of non-Hodgkin lymphoma known as lymphoplasmacytic lymphoma (LPL). It is a rare blood cancer in which abnormal cells build up in the bone marrow and other places.

WM most commonly affects people over 60 and slightly more men than women.

To understand WM it helps to get to know some of the terms that your doctor may use and to learn a bit about the biology of the disease. Understanding what causes WM and how the disease develops will help you to ask the right questions and make good treatment choices.

Understanding the Condition

To understand WM it helps to know a bit about normal blood cell production and what goes wrong.

Normal Blood Cell Production


Bone marrow and the three types of blood cells

The cells involved in WM are a type of white blood cell called B cells. B cells respond to an infection by changing into plasma cells. The plasma cells make antibodies, which help the body to fight the infection.

Infection, B cell, plasma cell, and antibodies


How Does Waldenström Macroglobulinemia Develop?

WM develops when a genetic change happens in a B cell as it is developing into a plasma cell. The change or mutation causes the cell to multiply in an uncontrolled way. The abnormal cells carrying the mutation are LPL cells.

This abnormal growth of LPL cells in the bone marrow means normal stem cells that make the different types of blood cells are crowded out. This may result in:

  • fewer red blood cells
  • fewer white blood cells
  • fewer platelets

Low levels of healthy blood cells cause symptoms.

Healthy and unhealthy bone marrow

Rarely, LPL cells also grow in the lymph nodes and other organs of the body, such as the spleen, intestine or bones. The nodes or organs may become enlarged, resulting in lumps under the skin in areas like the neck, armpit and groin or inside the body. Occasionally, the spleen enlarges enough to cause abdominal discomfort and a feeling of fullness. Sometimes, people may have changes in their bowel habit, which should be investigated. Tell your doctor if you have any unusual or persistent symptoms.

Lymph nodes that can be affected

LPL cells are copies (clones) of one cell type (mono). So the antibodies they produce are also of one type, IgM, and are called monoclonal antibodies. IgM monoclonal antibodies (also called IgM paraproteins or M proteins) are found in the bloodstream of nearly all people with WM.

LPL cells are copies (clones) of one cell type (mono). So the antibodies they produce are also of one type, IgM, and are called monoclonal antibodies. IgM monoclonal antibodies (also called IgM paraproteins or M proteins) are found in the bloodstream of nearly all people with WM.

Jan Gösta Waldenström


Information based on Fast Facts for Patients: Waldenström Macroglobulinemia (Karger, 2022).

Thrombotic Thrombocytopenic Purpura (TTP): 10 Frequently Asked Questions

This is the eighth part of our series about the condition based on our patient booklet “Fast Facts for Patients: Thrombotic Thrombocytopenic Purpura”. This blog post provides answers to 10 frequently asked questions about thrombotic thrombocytopenic purpura (TTP).


How do you get TTP?

People with congenital TTP (cTTP) are unable to make ADAMTS13 because of a genetic condition. Immune TTP (iTTP) occurs when the immune system mistakenly attacks ADAMTS13 with an antibody, stopping it from working. For most people, the reason why this happens is unknown. Low levels of ADAMTS13 result in small blood clots, and low red blood cell and platelet levels.


Can it be passed on and can I catch it from someone else?

No, iTTP cannot be passed on to or caught from someone else. People with cTTP have inherited it from their parents (if their parents are carriers). There is a chance that they might pass it on to their children.


Can I get it again?

Yes, it is possible to get iTTP again. The best way to prevent this is to monitor ADAMTS13 levels in the blood. If they are low, treatment with rituximab can be started to prevent a TTP relapse. In cTTP, ADAMTS13 levels are always low, so you will need regular plasma infusions to keep you well.


What treatment will I need?

If you have iTTP, you will need treatment during an acute TTP episode with plasma exchange and medication to suppress the immune system. You may also need outpatient treatment to  suppress the immune system to prevent a relapse. If you have cTTP you will need treatment with infusions of plasma.


Will I need treatment for the rest of my life?

This depends on the type of TTP that you have. Patients with iTTP will need treatment for acute episodes or to prevent an acute episode. If you have cTTP, you are likely to need long-term treatment with infusions of plasma.


What are the side effects of treatment?

Treatment for TTP is generally very safe, but there are potential side effects, depending on the treatment given.


Can I exercise with TTP?

Yes, it is safe to exercise, but it is normal to feel tired early on after an acute TTP episode. Regular exercise is good for you, but do not push yourself too hard.


When can I go back to work?

Your medical team will discuss this with you; it will depend on the TTP treatment you are receiving and, most importantly, how you are feeling and the type of job you have. This may mean you cannot return to work for at least a few weeks after an acute iTTP episode, and sometimes it can take longer. We recommend a gradual, phased return to work and, where possible, you should discuss this with your employer and/or your occupational health department.


Can I take or eat anything to stop another TTP episode?

What you eat will not cause or prevent a TTP episode, but it is important that you eat a healthy balanced diet for your general health.


I want to go on holiday, will TTP affect my travel insurance?

Having TTP can mean your travel insurance premium will be higher; however, some insurance companies generally offer insurance for patients with TTP, and it is important that you take insurance out before you travel.


Please check out the other posts of our series here:


Information based on Fast Facts for Patients: Thrombotic Thrombocytopenic Purpura (Karger, 2022).

Thrombotic Thrombocytopenic Purpura (TTP): The UK TTP Registry

This is the seventh part of our series about the condition based on our patient booklet “Fast Facts for Patients: Thrombotic Thrombocytopenic Purpura”. This article offers information about the UK TTP Registry, psychological support and neuropsychological testing, and when going home after TTP treatment.


The UK TTP registry is important for improving our understanding of TTP. The UK TTP registry is used to collect information and blood test results (from when you are admitted to hospital until the episode has resolved) to help improve TTP care and treatment. Your TTP team will be able to discuss this with you at your appointments. You may also be asked to take part in other studies.

Psychological Support and Neuropsychological Testing

TTP can have important effects on both mood and brain function (cognition). Problems such as low mood or anxiety, or issues with memory and concentration, are fairly common after a TTP episode, and can present in many ways. They may happen early after diagnosis or several weeks later, and can be temporary or, occasionally, last longer.

Whenever they emerge, if you are experiencing any of these symptoms, it is important that you discuss them with your TTP team.

Support is available and your team can organize it for you. Sometimes a referral is made for assessment by a clinical psychologist/counsellor if needed. The psychology team is experienced in dealing with patients with TTP so has a good understanding of the impact it can have. Your TTP team can also refer you to specialists who can test your memory/cognitive function (neuropsychological testing) and help you improve it.

Going Home after TTP Treatment

You will be able to go home when you are feeling better, your platelet count is within normal limits and plasma exchanges have stopped. Your general practitioner (GP) will be informed of your condition and the treatments that you have received, and we will establish links with your local hospital if you live some distance from University College London Hospitals (UCLH).

Practical Tips

  • When you do get home, you will need to relax. You will feel very tired because you will have likely been less mobile than normal for a while and your body will still be recovering from the acute TTP episode. In addition, you will probably still be anemic (low red blood cell count/hemoglobin), which can add to feeling fatigued. Do not try to go straight back into your old routine, and accept offers of help from friends and family.
  • You will need to consider a phased return to work or working from home where possible. We can provide certificates/letters for your employer.

Medications after Discharge

If you have started caplacizumab treatment, you will continue this at home for a few weeks and will need to self-inject (or have someone else administer it for you). Your nurse specialist will teach you how to do this. You will probably also go home with folic acid and a medication to protect your stomach.

Having the caplacizumab injection every day is very important; it is stopping the little blood clots from forming and preventing TTP from relapsing.

Dos and don'ts when living with TTP.

What to Do If You Feel Unwell

When you first go home you should expect to feel tired, but there are some things to look out for:

  • headaches not relieved by paracetamol
  • blurred vision, dizziness or confusion
  • easy bruising without obvious cause
  • dark urine
  • feeling unwell and worried.

It is important that you call your TTP nurse specialist (or emergency hematology contact number, if outside normal working hours) if you have any of the symptoms above. They will arrange for you to have a blood test.

In most cases, the blood counts will be steady, but occasionally a patient may have an early relapse and will need to be readmitted for further treatment. If you do not live near to UCLH we may be able to arrange for you to have a blood test locally.

Follow-Up Appointments

You can expect to be seen weekly as an outpatient for at least 4 weeks for further treatment/clinic appointments with your Consultant Hematologist or Senior Registrar and a TTP nurse specialist. They will be able to monitor your recovery and give you further treatment where needed, or refer you to other services that may be helpful. As your ADAMTS13 level returns to normal/ your baseline, these visits will increase from weekly to monthly, and then to every 3–6 months. However, this will depend on how clinically well you are and your ADAMTS13 level. For example, if your ADAMTS13 level is repeatedly normal, you may have fewer initial visits. Similarly, if you are showing signs of needing elective rituximab treatment, extra visits may be needed.

If you have been diagnosed with cTTP you will need to attend clinic regularly for your plasma infusion treatments.

Clinic takes place on Fridays on the 4th floor of the Macmillan Cancer Centre, Huntley Street. You will need to go to the lower ground floor first to have a blood test, then come upstairs to your clinic appointment. You will be given some blood sample bottles to bring with you to clinic; this is to test your ADAMTS13 level. You will be told some of your results straight away, such as your hemoglobin and platelet levels, but you will get the rest another day. The doctor who sees you will check your results and send you a letter to let you know what they are. You will be contacted if there is any need to see you again quickly.

It is important that you attend all your clinic visits so that we can see how you are responding to treatment. They are also the best way for you to access services that you need.

TTP in the Long Term

It is important to remember that TTP (both iTTP and cTTP) will need lifelong follow-up in the clinic. This will allow appropriate monitoring and any need for treatment to be identified. If you have iTTP, treatment may be needed intermittently to prevent a relapse; your ADAMTS13 level will be checked at regular intervals to see if this is needed. Patients with cTTP often need regular plasma infusion treatments to control their symptoms.


Please check out the other posts of our series here:


Information based on Fast Facts for Patients: Thrombotic Thrombocytopenic Purpura (Karger, 2022).

Medications for Immune Thrombotic Thrombocytopenic Purpura (iTTP) and the Role of Clinical Trials

This is the sixth part of our series about the condition based on our patient booklet “Fast Facts for Patients: Thrombotic Thrombocytopenic Purpura”. This article focuses on the treatment for immune thrombotic thrombocytopenic purpura (iTTP), i.e. medications that prevent blood clots (thrombosis) and other supporting medications/treatments, as well as the role of clinical trials.


Immune TTP (iTTP) Treatment: Medications that Prevent Blood Clots (Thrombosis)


Caplacizumab is given during an acute iTTP episode. It is an antibody medication that stops von Willebrand factor binding to platelets; it is given to speed up recovery from and reduce the risk of small blood clots (microvascular thrombosis). It is usually given as a daily subcutaneous injection for around 4 weeks during an acute iTTP episode, but sometimes for longer. Most people receiving caplacizumab injections have very few side effects (if any).

 Possible Side Effects
  • Increased risk of bleeding, including nosebleeds and heavy periods.

Injection with caplacizumab for iTTP.

Aspirin and Low-Molecular-Weight Heparin

Aspirin and low-molecular-weight heparin are medications given to thin the blood in acute iTTP episodes. Low-molecular-weight heparin is usually only given in hospital, but you may be given aspirin for several months (sometimes longer). It is important to let your doctor/nurse specialist know if you have any bleeding symptoms.

Immune TTP (iTTP) Treatment: Other Supporting Medications/Treatments

Folic Acid

Folic acid is a vitamin that is needed to make new red blood cells. It is given after an acute iTTP episode to speed up their production.

Omeprazole, Lansoprazole and Ranitidine

These medications protect the stomach against other medications that can irritate it (such as steroids).

Blood Transfusion

Because red blood cells can become damaged and broken down in TTP (hemolysis), it is normal to have a low hemoglobin level (anemia) and require a blood transfusion. The transfusion is given intravenously, either through a cannula or a vascath (both tubes that go into a vein).

Clinical Trials

Clinical trials are very important. They test new treatments for both iTTP and cTTP and compare them with existing treatments. Several important TTP clinical trials have been carried out in recent years, and others are ongoing; they include trials involving caplacizumab for acute iTTP, and recombinant ADAMTS13 for cTTP and acute iTTP. If there are clinical trials that you could join, your doctor will discuss this with you.

Recombinant ADAMTS13

Recombinant ADAMTS13 is an artificial version of the ADAMTS13 enzyme naturally found in human plasma, which has a slightly different structure so antibodies that target ADAMTS13 cannot bind to it. It has the advantage that it is not a blood product (derived from donor blood), so there is no risk of infection.

Recombinant ADAMTS13 is currently being given to patients with cTTP and iTTP in clinical trials.

Recombinant ADAMTS13 has the potential to revolutionize the way TTP is treated. Recombinant ADAMTS13 is currently being given to patients with cTTP and iTTP in clinical trials.


Please check out the other posts of our series here:


Information based on Fast Facts for Patients: Thrombotic Thrombocytopenic Purpura (Karger, 2022).

Immune Thrombotic Thrombocytopenic Purpura (iTTP) Treatment: Medications Suppressing the Immune System

This is the fifth part of our series about the condition based on our patient booklet “Fast Facts for Patients: Thrombotic Thrombocytopenic Purpura”. This article addresses medications that suppress the immune system in immune thrombotic thrombocytopenic purpura (iTTP) treatment, including possible side effects.


Steroids (given intravenously or as tablets) are usually given in the first few days or weeks after acute iTTP is diagnosed. They suppress the immune system quickly, which is useful in the short-term because other therapies can take time to work.

Possible Side Effects

  • Changes in mood, indigestion and stomach pains: these are the most common side effects.
  • Other side effects can be thinning of the bones (osteoporosis), weight gain, a “round face” and easy bruising, but these are normally seen in patients who are on steroids longer term (many months or years).
  • Your blood sugar can be affected, so this will be monitored; if you are diabetic, your medication/insulin dosage may need to be altered while you are on steroids.

Practical Tips

  • Where possible you should take steroids in the morning, and you will be given another tablet to protect your stomach while you are taking them.

Rituximab/Anti-CD20 Therapy

Rituximab is given during an acute iTTP episode, but you can also have it electively as an outpatient (where you come to hospital for a short appointment rather than being “admitted”) to prevent another acute TTP episode occurring (known as an acute relapse).

Rituximab is an antibody medication that binds to a type of lymphocyte (a type of white blood cell) called a B cell at a receptor called CD20. B cells can produce antibodies, including the antibody that causes TTP. When rituximab binds to the CD20 receptor, it causes the B cells to break down and clears the TTP-causing antibodies from the body. Other so-called anti-CD20 therapies are sometimes used instead of rituximab.

Rituximab is given as a drip (infusion) through a cannula inserted into a vein. Normally, 4–8 weekly infusions are given after an acute TTP episode, depending on how long it takes to get a response. It is quite common to get a mild reaction during the rituximab infusion, so the first infusion is usually given slowly over 8–12 hours, during which time you will be closely monitored by the TTP team. You will be given an antihistamine (such as piriton) and paracetamol beforehand to help reduce the risk of a reaction.

Possible Side Effects

  • Flu-like symptoms, including a high temperature, chills, weakness, muscle aches, tiredness, dizziness and headaches, can occur during the infusion, but do not usually last long.
  • You may have low blood pressure (hypotension) during the infusion, so your blood pressure will be checked regularly.
  • If you feel sick and/or have occasional vomiting, you will be given antisickness tablets.
  • You may have a slight allergic reaction.
  • Rituximab can reduce your body’s production of antibodies, making you more likely to get an infection.
  • Sometimes the number of neutrophils (a type of white blood cell) can drop after treatment, making you more likely to get a bacterial infection.
  • You may experience warmth in your face (flushing) as well as some redness or darkening for a short time during the infusion.
  • Very rarely, patients can complain of joint pains, especially in the knees.
  • Progressive multifocal leukoencephalopathy is a very rare complication of rituximab. It is usually seen in patients receiving combination chemotherapy. If you have more questions, please discuss these with your doctor.

Practical Tips

  • If you still feel sick after taking antisickness tablets, tell the nurses, who will get a stronger antisickness medication prescribed for you.
  • Let the nurses know if you have any of the following allergic reaction symptoms: skin rashes or itching, a feeling of swelling in the tongue, irritation of the nasal passages, wheezing, cough or breathlessness.

Mycophenolate Mofetil (MMF)

MMF is taken as a tablet; it is usually started when ADAMTS13 levels stay low despite administration of rituximab. MMF works by inhibiting lymphocytes (a type of white blood cell) called B cells and T cells. It can take up to 4–6 weeks for MMF to start working, so there will not be an immediate response. The dose may be increased depending on the response. Side effects are generally mild and usually only occur in the first few weeks of treatment.

Possible Side Effects

  • Headache is common, but not experienced by all patients.
  • Abdominal distension (swelling) can happen in some patients; others may experience abdominal pain.
  • Feeling sick and occasional vomiting can occur.
  • Some patients experience changes in their sense of taste.
  • You may be more likely to get an infection, so you will be closely monitored in the clinic by the TTP team.

Practical Tip

  • If you do feel sick, let your doctor/nurse know and antisickness tablets can be prescribed if needed.

Velcade® (bortezomib)

Velcade® (bortezomib) is sometimes given together with other treatments for TTP. It works by reducing the number of B cells. Velcade® can be given either as a subcutaneous injection (given under the skin) or intravenously. Most people do not experience any side effects, and any experienced are normally mild. This is because the doses of Velcade® used to treat TTP are quite low.

Possible Side Effects

  • Low blood pressure (hypotension) can occur, which may make you feel dizzy or faint. If this happens, it is important to make sure you drink more fluids and stay hydrated.
  • Nerve problems (peripheral neuropathy) cause a tingling sensation in the fingers and toes. Patients with TTP do not usually get this because only a few injections of low-dose Velcade® are given.
  • Abdominal problems like diarrhea or constipation.
  • There is an increased risk of infection. You will be closely monitored by the TTP team in the clinic.

Other Treatments

Although not common, TTP is sometimes associated with an infection, including with the human immunodeficiency virus (HIV). This is rare, but if it is identified you will be started on antiviral medications after discussion with a specialist.


Please check out the other posts of our series here:


Information based on Fast Facts for Patients: Thrombotic Thrombocytopenic Purpura (Karger, 2022).

Immune Thrombotic Thrombocytopenic Purpura (iTTP) Treatment: Plasma Exchange

This is the fourth part of our series about the condition based on our patient booklet “Fast Facts for Patients: Thrombotic Thrombocytopenic Purpura”. This article focuses on the treatment for immune thrombotic thrombocytopenic purpura (iTTP) in the form of plasma exchange.


The most important initial treatment for acute iTTP is plasma exchange, which is carried out by a specially trained nurse (apheresis nurse) using a machine called a cell separator. This separates the liquid plasma from the blood cells and replaces it with healthy donor plasma (containing the missing ADAMTS13 enzyme) before the blood passes back into the body.

Before the procedure, a small, thin tube is inserted into a large vein, either in your leg (groin) or neck, to allow blood to flow to the cell separator. This is inserted under local anesthetic (to numb the area). To stop blood clotting in the machine, an anticoagulant called ACDA is passed into the plasma and may cause low calcium levels in the body.

Cell separator for treating TTP.

Each plasma exchange procedure normally takes 2–5 hours, and one or two procedures per day are usually needed in the first few days after admission to hospital, until the platelet count returns to normal. Plasma exchange can be carried out at your bedside on the ward.

Plasma exchange is very safe. The plasma used is taken from healthy donors and screened to minimize the risk of any infection. It is specially treated to kill viruses, such as hepatitis C virus.

An anticoagulant is something that stops the blood from clotting. The process of blood clot formation is also known as coagulation.


Plasma exchange treatment for iTTP.


Possible Side Effects

  • The shift of fluid when plasma is being removed and then replaced can sometimes cause low blood pressure, leading to dizziness and/or feeling faint. It is important to rest for at least 20 minutes after the procedure, and to avoid moving too quickly.
  • Some people are very sensitive to ACDA and their calcium levels drop very quickly. Calcium is given to correct this, either as tablets or intravenously (through a cannula, which is a small plastic tube, into a vein in the arm).
  • Because plasma contains other proteins apart from ADAMTS13, it is possible to have allergic reactions. These can include an itchy rash or, very rarely, a feeling of swelling in the tongue, irritation of the nasal passages, wheezing, cough or breathlessness. If you have an allergic reaction during the exchange, we will give you medication to treat it.

Practical Tips

  • It is important that you rest for at least 20 minutes after the plasma exchange procedure and avoid moving too quickly.
  • Let the apheresis nurse know if you have pins and needles in your nose, face, hands or body, or you can feel a vibration in your chest. Your calcium level may have dropped and will need to be checked.


Please check out the other posts of our series here:


Information based on Fast Facts for Patients: Thrombotic Thrombocytopenic Purpura (Karger, 2022).

How Is Thrombotic Thrombocytopenic Purpura (TTP) Treated?

This is the third part of our series about the condition based on our patient booklet “Fast Facts for Patients: Thrombotic Thrombocytopenic Purpura”. This article shows the different treatment modalities for thrombotic thrombocytopenic purpura (TTP), explains how your treatment is being monitored, and also focuses on the treatment of congenital TTP (iTTP) treatment.

Treatment of TTP

Both immune TTP (iTTP) and congenital (cTTP) are treated by replacing the missing ADAMTS13 enzyme. For iTTP, it is also essential that the immune system is suppressed to stop the production of antibodies that target ADAMTS13. Drug treatment can be given as well. Some patients may also need medicines to stop the body from making blood clots.

TTP treatment: plasma exchange for iTTP and plasma infusion for cTTP.

Monitoring Your Treatment

Because acute iTTP is life-threatening, it needs urgent intensive treatment. It is also very important that patients’ responses to treatment are monitored. This is done by monitoring symptoms and vital signs (like temperature, heart rate, breathing rate and blood pressure), and also blood markers such as platelet counts and ADAMTS13 enzyme levels.

Platelet Counts
  • These usually begin to recover from low levels back to normal a few days to 1–2 weeks after starting treatment.
ADAMTS13 Levels
  • These usually take a few weeks to return to normal.
  • It is important that your ADAMTS13 level keeps being monitored, even if you are well and have fully recovered from acute TTP (called remission).
  • If your ADAMTS13 level begins to drop, it could indicate that the antibody causing TTP is coming back and there is a risk of another acute TTP episode (called a relapse). This can be treated by giving a medication called rituximab electively (to clear the antibody and prevent a relapse) as an outpatient.

If a treatment is described as being elective it means that it is planned, as opposed to being given in an emergency.

Magnetic resonance imaging

Because TTP commonly affects the brain and the heart, you may have a brain scan called an MRI (magnetic resonance imaging) scan and a heart scan (an echocardiogram) to check that they are functioning normally.

It is very important to be followed up for TTP by a specialist.

Treatment for Congenital TTP (cTTP)

Treatment of cTTP focuses on replacing the missing ADAMTS13 enzyme.

Plasma Infusion

Infusions of plasma are given via a cannula inserted into a vein. The amount of plasma infused and the frequency of the infusions are based on symptoms (such as headaches) and blood test results, but infusions are normally 1–2 weeks apart. In some circumstances, recombinant ADAMTS13 enzyme may be given if you decide to take part in a clinical trial. See the next section for more information. During plasma infusion, patients with cTTP sometimes need to take medications that thin the blood, such as aspirin. Folic acid may also be taken to speed up the production of red blood cells. Response to plasma infusions in patients with cTTP is assessed by monitoring symptoms and blood test results. How much plasma you are given and how many infusions you have are based on this.

Plasma infusion for cTTP.


Please check out the other posts of our series here:


Information based on Fast Facts for Patients: Thrombotic Thrombocytopenic Purpura (Karger, 2022).

Types and Symptoms of Thrombotic Thrombocytopenic Purpura (TTP)

This is the second part of our series about the condition based on our patient booklet “Fast Facts for Patients: Thrombotic Thrombocytopenic Purpura”. This article details the types and symptoms of TTP.

Types of TTP

Although there is often no clear trigger of TTP, it can occur after an infection and also in pregnancy. You cannot “catch” TTP from someone else who has it. There are two types of TTP, relating to the reason why a person no longer has ADAMTS13. The most common type is iTTP; cTTP is much rarer.


Fewer than 6 in every 100 patients with TTP will have congenital TTP (cTTP).

Immune TTP (iTTP)

iTTP is caused when a person’s immune system starts to produce antibodies against ADAMTS13 that remove it from the plasma. It cannot be passed onto someone else. Older terms for iTTP that you may come across are “idiopathic” or “acquired” TTP.


iTTP is caused when a person’s immune system starts to produce antibodies against ADAMTS13 that remove it from the plasma.

Congenital TTP (cTTP)

Rarely, TTP is caused by a genetic condition. The production of ADAMTS13 is controlled by a gene called ADAMTS13, which is found on chromosome 9. cTTP occurs when mutations (errors in the “genetic code” – the nucleotide sequence – for ADAMTS13) are inherited, which mean that the body does not make enough ADAMTS13. cTTP can be diagnosed shortly after birth or in childhood, but sometimes is not diagnosed until much later in life, even adulthood (such as during pregnancy).


Chromosomes, genes and gene mutations.

The sequence of molecules that make up a protein depends on the sequence of nucleotides in the gene that codes for it. If the nucleotide sequence becomes altered (mutated), the resulting protein may not work properly or may no longer be made, which can cause problems (diseases).

How Is cTTP Inherited?

Everyone inherits two copies of the ADAMTS13 gene, one from each of their parents. To inherit cTTP, you have to inherit two non-working copies of the ADAMTS13 gene. This is called an autosomal recessive disease.


How is congenital TTP (cTTP) inherited?

Symptoms of TTP

TTP symptoms can vary from person to person, depending on how the body is affected by the disease. iTTP symptoms usually appear quickly (over a few weeks), whereas cTTP symptoms may appear more slowly.

Common Symptoms

Common symptoms include:

  • fatigue
  • neurological symptoms caused by small blood clots affecting the brain, such as headache, confusion, and weakness/abnormal sensation and/or seizures.

Other symptoms can include:

  • abdominal or chest pain
  • breathlessness (due to anemia)
  • dark urine
  • bruising and small bleeds under the skin, which look like small red dots, that are called petechiae (pronounced “puh-TEE-kee-eye”) and caused by low platelet levels.

 Long-Term Symptoms

Although symptoms often improve dramatically with treatment, fatigue can persist for several months or longer after an acute TTP episode. Problems with low mood (such as depression) and memory or concentration can occur.


Please check out the other posts of our series here:


Information based on Fast Facts for Patients: Thrombotic Thrombocytopenic Purpura (Karger, 2022).

What Is Thrombotic Thrombocytopenic Purpura (TTP)?

This is the first part of our series about the condition based on our patient booklet “Fast Facts for Patients: Thrombotic Thrombocytopenic Purpura”. This article explains what TTP is.

First, the Facts …

  • Thrombotic thrombocytopenic purpura (TTP) is a life-threatening condition and needs urgent and immediate hospital attention, but can be reversed quickly with intensive treatment.
  • There are two types of TTP:
    • immune TTP (iTTP), which occurs when your immune system mistakenly attacks your own cells
    • congenital TTP (cTTP), which is inherited.
  • Emergency treatments for iTTP are plasma exchange (the removal and replacement of part of your blood), steroids and a medication called caplacizumab.
  • Treatment with another medication called rituximab helps to reduce the risk of relapse.
  • Treatment for cTTP is usually different, involving replacement of an enzyme called ADAMTS13, such as by plasma infusion.

What Is TTP?

TTP is a rare blood disorder that affects around 6 people per 1 million of the UK population every year. It can affect any age group, but is most common in adults, particularly women. It is usually caused by the body’s immune system attacking an enzyme (a type of protein that helps with specific tasks in the body) in the blood called ADAMTS13, causing blood clots to form in vital organs.

Blood Cells

Blood flows around the body in blood vessels called arteries and veins. Blood is made up of three types of blood cell and liquid called plasma. Plasma contains several types of proteins that the body needs to function normally.


Red blood cells, platelets and white blood cells

Blood Clotting

Blood clotting is the process the body uses to control blood loss and promote healing. When you cut yourself, blood vessels are damaged, and platelets bind to blood-clotting proteins (known as coagulation factors) and clump together to help stop the bleeding. One of the most important of these is called von Willebrand factor, which is made as a very large protein in the body and needs to be cut up smaller to function normally. The ADAMTS13 enzyme in plasma normally does this.

What Happens in TTP?

People develop TTP when they don’t have the ADAMTS13 enzyme. Without ADAMTS13 to control it, von Willebrand factor can cause platelets to bind to each other, causing blood clots to form in small blood vessels that supply vital organs, usually the brain and heart. Red blood cells can be damaged as they flow past the blood clots and are broken down (by a process called hemolysis) leading to a lack of red blood cells and low levels of hemoglobin (anemia). Because the platelets are making clots, the number of platelets circulating in the blood becomes very low (thrombocytopenia).


Blood vessel in a person with ADAMTS13 and blood vessel in a person with TTP

In other words, if you have thrombocytopenia, you have low levels of platelets in your blood. If you have anemia, the number of healthy red blood cells and level of hemoglobin in your blood is too low for enough oxygen to be delivered around the body.


Please check out the other posts of our series here:


Information based on Fast Facts for Patients: Thrombotic Thrombocytopenic Purpura (Karger, 2022).

Asthma in Pregnancy

This is the tenth post of our mini-series about asthma based on our patient booklet “Fast Facts for Patients and their Supporters: Asthma”. Here, we focus on asthma in pregnancy.

Asthma rarely occurs for the first time during pregnancy, but it may reappear during pregnancy if you had it as a child. About a third of women find that their symptoms get worse during pregnancy. This is usually because they stop taking their preventer medication.

It is important to keep your asthma well controlled. An asthma attack during pregnancy can harm both you and your unborn child. Reduce the risk of attacks by taking your preventer medication as prescribed. Also, the better you control your asthma during pregnancy the less chance your child has of developing asthma in the early years of life.

If your symptoms are very well controlled, your doctor may reduce your medications, although it is best to keep taking a preventer.

Most asthma medications are safe in pregnancy and won’t harm your baby. However, if you are taking add-on treatments, they will need to be reviewed and may have to be stopped until after the birth.

“It is important to keep your asthma well controlled.”

How Will Pregnancy Affect My Asthma?

Breathing problems. Your rate of breathing will go up during the first trimester. This is a normal hormone-driven response in pregnancy. It is not usually a problem. The upward pressure of the growing fetus later in pregnancy can restrict the movement of your diaphragm, which may make you feel more breathless.

Gastroesophageal reflux disease (GERD) often occurs in pregnancy and gets worse during pregnancy if you already have it. GERD can cause stomach fluids to seep into the airways, producing inflammation and worsening asthma symptoms.

Sinusitis and nasal congestion are common as the hormones you produce during pregnancy can make the tiny blood vessels in your nose swell. Nasal congestion can increase mouth breathing, which in turn leads to airway drying and worse asthma symptoms.

Can Asthma Be a Problem During Labor?

Although you will breathe very fast and heavily at times during labor, asthma attacks are rare. The hormones that you release in labor are powerful muscle relaxants that help to protect you from breathing difficulties during labor. If needed, salbutamol can be used at all stages of pregnancy, including labor.

Should I Have the Flu Vaccine During Pregnancy?

Yes – it is recommended you have a flu vaccine if you have asthma. It can be administered at any stage of pregnancy.

For the Best Asthma Control

  • Keep taking your medications as prescribed.
  • Take an appointment to talk to your doctor or nurse about your asthma – they will be able to set your mind at rest if you have any concerns about taking asthma medication while you are pregnant.
  • Keep track of your symptoms. Use a peak flow meter to check your lung function regularly and keep your Action Plan up to date.
  • Don’t smoke. It isn’t good for your asthma, your general health or the health of your baby. It can also increase your risk of miscarriage and early labor.
  • Check your environment for potential triggers. Your immunity changes during pregnancy and irritants that did not affect you before could now cause you problems.


Please check out the previous and the next post of our series here:


Information based on Fast Facts for Patients and their Supporters: Asthma (Karger, 2020).

Asthma in Children

This is the ninth post of our mini-series about asthma based on our patient booklet “Fast Facts for Patients and their Supporters: Asthma”. Here, we focus on asthma in children.

What Do I Do If I Suspect My Child Has Asthma?

Make an appointment with your doctor. Take along a note of the symptoms you are concerned about and when and where they happen (for example, morning/night, after exercise, outside/inside, when playing with the dog). A video or audio recording of your child’s wheeze or cough on your phone can be useful.

What Tests Will My Child Need?

The tests for asthma in children are the same as the tests in adults but be aware that your child may be too young for some. This means that you may not get a definite diagnosis of asthma straight away and your child may have ‘suspected asthma’ until it can be confirmed. Your child’s response to treatment will help with the diagnosis.

What Treatment Will My Child Receive?

Your doctor may try some treatments to see if they reduce your child’s symptoms. The medications are the same as those used to treat adults, but the doses may be different. Spacers with face masks can be helpful for babies or young children who have difficulty using an ordinary spacer with a mouthpiece. Ask your doctor or asthma nurse about these and how you can help your child to use one.


Treatment for children with asthma inhaler


What Does My Child’s School Need to Know?

Provide the school with a copy of your child’s Action Plan so that they are aware of your child’s needs (for example, avoiding certain triggers, what preventers they need to take and when). Most schools now have training for staff to manage medical issues such as serious allergic reaction (anaphylaxis) and asthma.

What Else Can I Do?

If you smoke cigarettes or drugs or are likely to expose a child with asthma to smoke, talk to your doctor about quitting. There is lots of support available to help you stop.


Please check out the previous and the next post of our series here:


Information based on Fast Facts for Patients and their Supporters: Asthma (Karger, 2020).

How Can Treatment Side Effects of Cholangiocarcinoma Be Reduced?

This is the seventh and last part of our series about the condition based on our patient booklet “Fast Facts for Patient and Supporters: Cholangiocarcinoma”. This article shows how the treatment side effects of cholangiocarcinoma can be reduced.

Most treatments have side effects that can affect how you feel. Side effects are problems usually caused by the effect of your treatment on healthy cells. While most people experience at least one side effect from a treatment, the majority of people do not have a high number of side effects from any given treatment.

Side effects can last anywhere from a few minutes while receiving treatment to effects that persist long after the treatment is completed. Your doctor may have various options to address your side effects, so talk with him or her and your treatment team when you develop or experience a side effect. Some things you can do on your own to help reduce the common ones are described below.

Loss of Appetite

  • Eat small meals frequently and snack when you are hungry
  • Eat foods that are high in calories and protein
  • Keep your favorite foods easily accessible for snacking
  • Ask for help with preparing meals or buy prepared meals
  • Drink fluids between meals, rather than with meals, so you do not feel full too quickly

Loss of appetite


  • Use nausea medications if prescribed by your oncologist
  • Eat small meals
  • Try to avoid smells during cooking


  • Use prescribed or over the counter medications
  • Try to eat bland food
  • Drink plenty of water and electrolyte solutions (from a chemist)


  • Stool softeners or stimulant laxatives may help
  • Drink plenty of water
  • Walk or do some exercise


  • Walk or exercise regularly
  • Plan your day so you have time to rest
  • Take short naps or breaks rather than having one long rest
  • Do one activity at a time or do easier/shorter versions
  • Eat well and drink plenty of fluids

Appetite or Taste Changes

  • Vary meals
  • Use plastic utensils and glass cookware to lessen metallic tastes
  • Use herbs, spices, sugar, lemon, marinades or sauces to flavor foods
  • Try gum or hard candies/sweets with mint, lemon or orange flavors to lessen metallic or bitter tastes
  • See a nutritionist or dietician
  • Use appetite stimulants if prescribed by your oncologist


  • Talk to your doctor if you experience numbness, tingling, cold sensitivity, pain when walking or using your hands, or trouble picking things up or balancing
  • Be careful when using sharp objects or hot objects/water
  • Discuss whether pain medication or other medications would be useful to help manage symptoms

Mouth Sores

  • See your dentist regularly to keep your mouth as healthy as possible while on treatment
  • Keep your mouth moist by using mouth rinses as recommended by your treatment team
  • Drink plenty of water and other fluids throughout the day
  • Inform your doctor if you notice sores on your tongue, gums or the insides of your cheeks

Hand−Foot Syndrome

(skin on palms and soles is red, peeling, cracking and dry)

  • Moisturize your hands and feet regularly
  • Use urea-based creams at least twice a day on your hands and feet
  • Cool the hands and feet with ice packs, cool running water or a cool wet towel for 15–20 minutes at a time (avoid direct contact with ice)
  • Limit the exposure of hands and feet to hot water or harsh chemicals
  • Avoid sources of friction, rubbing or prolonged pressure to your palms or soles

Treating hand-foot syndrome


Please check out the other posts of our series here:


Information based on Fast Facts for Patients and their Supporters: Cholangiocarcinoma (Karger, 2021).

What Are the Treatments and Schedules for Cholangiocarcinoma?

This is the sixth part of our series about the condition based on our patient booklet “Fast Facts for Patient and Supporters: Cholangiocarcinoma”. This article lists the treatments and schedules for cholangiocarcinoma.

Adjuvant Therapy

Typically, adjuvant treatment is with capecitabine given by mouth for 6 months, or gemcitabine given in combination with capecitabine for 3 months, followed by radiation therapy with capecitabine as radiosensitization.

Capecitabine may be used as adjuvant therapy for cholangiocarcinomas located anywhere in the bile duct system, while gemcitabine/capecitabine with capecitabine/radiation is typically used for people with extrahepatic cholangiocarcinomas.

Neoadjuvant Therapy

Neoadjuvant therapy uses the same medications as those used for palliative treatment (see below) and/or involves radiation therapy given with radiosensitizing chemotherapy.

Palliative Therapy

The aim is to control the growth of tumors that cannot be fully removed.

First-Line Therapy

First-line therapy is the first treatment you have. It typically involves two chemotherapy drugs: cisplatin and gemcitabine. Treatment is given by vein weekly for two consecutive weeks, followed by a week’s break (a 3-week cycle).

Some people with kidney or liver problems may not be able to tolerate one or both drugs. In this case, oxaliplatin may be used in place of cisplatin. 5-fluorouracil (5-FU) or capecitabine can be used in place of gemcitabine. In addition, nab-paclitaxel may be added to cisplatin and gemcitabine, or used in place of platinum drugs (cisplatin/oxaliplatin) in certain circumstances. These drugs may have different treatment schedules.

Second-Line Therapy

Second-line therapy is given after your tumor grows during or after first-line therapy or if you are not able to tolerate first-line therapy.

Biomarker testing may identify second-line immunotherapy or targeted therapy options. The treatments described below may not be available in some areas.

There are several immunotherapy medications that may be used in place of chemotherapy for tumors described as microsatellite instability-high (MSI-H) or mismatch repair deficient (dMMR). They may also be used in tumors that have been identified to have a high tumor mutational burden (TMB).

For tumors with an NTRK gene fusion, targeted therapies have been developed that help stop the effects of the fusion on tumor growth. Larotrectinib and entrectinib are examples.

Similarly, targeted therapies for abnormalities in the FGFR2 gene (fusions or other rearrangements) can stop the genetic changes from promoting tumor growth. Pemigatinib is an example.

If no molecular signature is identified or a targeted drug is not available, 5-FU or capecitabine is typically used, together with oxaliplatin. Other options include 5-FU or capecitabine if gemcitabine was used as first-line therapy, or gemcitabine if 5-FU or capecitabine was used initially. Other options may include 5-FU in combination with irinotecan, or regorafenib, which targets blood vessels within the tumor.

Third-Line Therapy

Third-line therapy may be available. The options will depend on the therapies you received in the past and the availability of therapies for your particular type of cancer.


Please check out the other posts of our series here:


Information based on Fast Facts for Patients and their Supporters: Cholangiocarcinoma (Karger, 2021).

How Can Cholangiocarcinoma Be Treated by Systemic Therapy and Infusion Therapy?

This is the fifth part of our series about the condition based on our patient booklet “Fast Facts for Patient and Supporters: Cholangiocarcinoma”. This article focuses on the treatment of cholangiocarcinoma by systemic therapy and infusion therapy.

Systemic Therapy

Systemic therapy is treatment that goes throughout the whole body. There are three different types of systemic therapy: chemotherapy or cytotoxic therapy, immunotherapy and targeted therapy.

The reasons you may need systemic therapy can include one or more of the following:

  • There are tumors in different parts of the liver.
  • The position or nature of the cancer means localized treatment is unlikely to be effective.
  • The lymph nodes are affected.
  • There is evidence that the cancer has spread to another part of the body.
  • The tumor is too big to be removed and needs to decrease in size to allow for surgical removal.
  • The tumor has been removed but microscopic cancer cells may be still present and need to be destroyed.
  • Radiation therapy requires a boost to increase the chances of killing the cancer cells.

Systemic therapy can be used as neoadjuvant or adjuvant treatment or as palliative treatment. It typically involves delivering therapy by vein or tablet and targets all areas where cancer exists.

Neoadjuvant or adjuvant therapy is given to people whose disease is located in one area of the liver or bile duct, without evidence of spread to other areas of the body. This aims to decrease the size of the tumor (neoadjuvant therapy) and prevent the growth of microscopic cancer cells that may remain after removal of the primary tumor (neoadjuvant and adjuvant therapy).

Palliative therapy aims to control the growth of the cancer to help with quality and length of life. It is given to people whose disease has spread to more than one area of the body (metastatic).

Chemotherapy or cytotoxic therapy uses medicines that aim to stop cancer cells from growing and dividing. They typically target cells that are dividing or making DNA copies, so cells like cancer cells, that are dividing rapidly, are more likely to be affected. Noncancer cells, like blood cells and cells lining the gastrointestinal tract, can also be affected, leading to side effects.

Immunotherapy stimulates or suppresses cells in the body’s immune system. These therapies aim to enable the immune system to fight the cancer, rather than directly attacking the cancer.

Targeted therapy identifies and attacks specific tumor cells that have changes in their DNA or proteins on their surface, which usually results in less harm to other cells. These drugs typically block the activity of proteins or other signals in the body that are involved in cancer growth and spread.

Systemic therapy can be given in many ways. Intravenous (IV) therapy is given directly into a vein, while oral therapy is typically a pill, capsule or liquid that you swallow by mouth. Sometimes, therapy can be injected as a shot in the skin or muscle. Different systemic therapies are given in different ways, and the schedule of treatment depends on the medication you are receiving and how it is delivered to you.

Knowledge Point

Adjuvant therapy is treatment given after a tumor has been taken out surgically and attempts to kill microscopic cells before they grow into established tumors.

You may be recommended to have adjuvant therapy after surgery to lower the risk of the cancer returning. This will depend on various characteristics, including the location of your tumor and your overall health.

In some cases, the tumor is too large to be taken out straight away or it may be close to blood vessels that cannot be removed. In this case, neoadjuvant therapy may be recommended. This is treatment given before the tumor is removed, with a goal of decreasing the size of the tumor to increase the chances of having the whole tumor removed at surgery.

Infusion Therapy

Many medications used to treat cholangiocarcinoma will be given by infusion. This can be done through a needle in the arm (peripheral intravenous, or IV, needle) or a port. Infusions can be given over a period of hours in the infusion center of your cancer center, or they can be delivered over the course of a few days via a portable infusion pump that you wear.


Infusion therapy


Before most infusions, you will undergo blood tests to check your blood counts, liver and kidney function and electrolytes to ensure that your body has enough reserve to tolerate the infusion and any potential side effects.

You may receive premedications that will help you to get through the infusion or prevent side effects from it. These can be medicines to control nausea, diarrhea, allergic reactions or swelling. Nurses trained specifically in cancer infusion therapy will monitor you for any side effects or reactions during the infusion. Tell your infusion nurse if you feel nauseated, have pain, have the urge to go to the bathroom or any other side effects.

If you receive your treatment through an IV needle, a new needle will be put in your arm at the start of each treatment and will be removed when the infusion is done.

With some treatments, your infusion will use a small pump that infuses medication over a period of days. This is typically delivered continuously through a port or large IV needle that is anchored in a larger vein. It is usually given as part of an outpatient treatment. After treatment, the pump is disconnected by someone trained to do this – this may be the infusion center nurse, a home visiting nurse or one of your caregivers who has received training.

Use of a Port

A port is a small, round metal or plastic disc that is placed under the skin on your chest or arm and connects to larger blood vessels in your body. Needles can be inserted through the skin into the port to draw blood and to deliver infusions. Ports can also be used to deliver treatments administered via infusion pumps.

Care of the Port

Usual care for a port involves getting it flushed by the infusion center nurses on a regular basis, as defined by your treatment team. Notify your oncology treatment team if your port becomes red or painful or if any fluid drains from it.


Please check out the other posts of our series here:


Information based on Fast Facts for Patients and their Supporters: Cholangiocarcinoma (Karger, 2021).

How Can Cholangiocarcinoma Be Treated by Surgery and Radiotherapy?

This is the fourth part of our series about the condition based on our patient booklet “Fast Facts for Patient and Supporters: Cholangiocarcinoma”. This article deals with the treatment of cholangiocarcinoma by means of surgery and radiotherapy.


To attempt to cure cholangiocarcinoma, the complete tumor and a surrounding area of normal tissue need to be removed. A surgical oncologist, liver transplant surgeon or hepatobiliary surgeon should evaluate you when you are diagnosed to assess whether surgery is likely to be successful.

For intrahepatic cholangiocarcinoma, a piece of the liver (a wedge or lobe) is removed, sometimes with nearby lymph nodes.


Surgery for intrahepatic cholangiocarcinoma


Before this surgery, you may need a portal vein embolization to increase the size of the remaining part of your liver. This involves stopping the blood flow to the portion of the liver that will be removed to encourage the remaining liver to grow.


Portal vein embolization


For extrahepatic cholangiocarcinoma, the bile duct, gallbladder, the surrounding piece of liver and nearby lymph nodes will be removed. The bile duct will be re-attached to the small intestine.

If the tumor is in the lower (distal) part of the bile duct, the lower part of the bile duct and nearby lymph nodes will be removed together with a piece of your pancreas and small intestine (a Whipple procedure). The remaining bile duct will be re-attached to the small intestine.

Ask your doctor to show you the areas that will be removed on this illustration.


Surgery for extrahepatic cholangiocarcinoma


Liver transplant is sometimes used in certain patients with extrahepatic cholangiocarcinoma when surgical resection is not possible. These transplants are typically done in specialized cancer centers and should only be considered after careful discussion with your care team.

Radiation Therapy

If your tumor is potentially curable but large or close to important structures such as blood vessels, radiation therapy may be used as neoadjuvant therapy to decrease the tumor size or move it away from other structures. This can increase the chances that surgery will be successful.

Radiation can also be used as adjuvant therapy if all the cancer cells were not removed by surgery or if the tumor is extrahepatic.

Medication may be given by mouth or by vein to help increase the chances that the radiation will kill the cancer cells – this is called radiosensitization. These medications are typically given at a low dose.

If your tumor remains localized to the primary site, and surgery is not an option, radiation can be used to give long-term control of tumor growth.

Finally, if your tumor has spread and one area is causing pain, radiation can be used to shrink that mass to help control that pain.

Radiation can be delivered to the cancer by:

  • external beams
  • radioembolization, in which radioactive beads are injected into arteries in the liver
  • brachytherapy, which involves inserting radioactive seeds directly into the tumor

External Beam

The radiation dose and schedule depend on the size and location of your tumor. Markers are placed on your skin or in the tumor itself to help direct the beam.


External beam radiation therapy


You may have therapy every day for a time. You may also have low-dose chemotherapy at the same time, to help make the radiation more effective; this is called sensitizing chemotherapy.

Stereotactic body radiotherapy (SBRT) involves delivering a high dose of radiation precisely to the tumor. It is usually given over a shorter time than traditional external beam radiotherapy and without any sensitizing chemotherapy.


Radioembolization delivers radioactive glass beads directly into the arteries that supply blood to the tumor. X-rays are used to guide the placement of the catheter that delivers the beads.

There is usually a planning stage that involves mapping the blood supply to the tumor. In the treatment stage, the radioactive beads are delivered to the tumor.





Brachytherapy involves implanting radioactive seeds into the tumor. It is typically used for tumors in the region where the right and left hepatic ducts meet (a perihilar tumor), usually when a tumor cannot be fully removed by surgery.




Please check out the other posts of our series here:


Information based on Fast Facts for Patients and Supporters: Cholangiocarcinoma (Karger, 2021).

Cholangiocarcinoma: Diagnostic Tests, Procedures and Staging

This is the third part of our series about the condition based on our patient booklet “Fast Facts for Patient and Supporters: Cholangiocarcinoma”. This article gives information on diagnostic tests and procedures as well as staging of cholangiocarcinoma.

Diagnostic Tests and Procedures

There are different types of imaging and procedures that can be carried out at this time. The decision about which to use will depend on availability in your area and your symptoms. Your doctor will arrange for appropriate tests for you.

Tumor Markers (CEA, CA 19-9)

  • Uses blood
  • Measures the levels of certain proteins in your blood


  • Uses sound waves
  • Good for taking pictures of small areas

CT (Computed Tomography)

  • Uses X-rays to take pictures of many parts of the body from different angles
  • You may have to drink a contrast dye and/or have contrast dye injected to help make the picture clearer

MRI (Magnetic Resonance Imaging)

  • Uses radio waves and magnets to take pictures of the body from different angles
  • You may have contrast dye injected to help make the picture clearer (the dye is different from the contrast used for CT scans)

Magnetic resonance imaging

MRCP (Magnetic Resonance Cholangiopancreatography)

  • A type of MRI that looks specifically at the bile ducts
  • Helps to see whether the cancer has caused a blockage in the bile duct

PET (Positron Emission Tomography)

  • Uses sugar with a radioactive tag to identify active cancer cells
  • Can be combined with CT images
  • Often used if CT or MRI is not clear

EUS (Endoscopic Ultrasound)

  • Uses a thin tube-shaped device with a camera at the end (an endoscope)
  • Uses ultrasound waves as well as the camera to detect a tumor
  • A piece of the tumor (biopsy) may be taken with a needle at the same time

Endoscopic ultrasound

ERCP (Endoscopic Retrograde Cholangiopancreatography)

  • Uses an endoscope with a camera at the end to look into the bile ducts
  • A thin flexible tube (catheter) is passed through the endoscope
  • Dye is injected into the area while X-rays are taken
  • Stents may be put into the bile duct (see page 32)
  • A biopsy may be taken with a needle at the same time

PTC (Percutaneous Transhepatic Cholangiography)

  • A dye (contrast medium) is injected directly through the skin into a bile duct to help define the position of the bile ducts
  • X-rays are taken to see where the dye flows within the bile ducts Laparoscopy (a surgical procedure)
  • Small cuts are made in the abdomen and a laparoscope (similar to an endoscope) is inserted to look inside the abdomen
  • A sample can be taken from the tumor (biopsy)


  • Uses a needle to obtain a sample of the tumor
  • Can be done surgically or with endoscopy, using ultrasound or CT

Biomarker Testing

  • Uses a sample of the tumor (obtained during a biopsy)
  • Looks for changes (mutations, fusions, deletions) in the DNA of the tumor that may be used for treatment decision-making
  • Is used for tumors that have spread to other areas of the body (metastatic tumors)

Circulating Tumor DNA

  • Is currently thought of as experimental
  • Measures tumor DNA that is floating freely in the bloodstream
  • Can be used to identify changes in the DNA that may be used for treatment decision-making
  • May be done if/when a tumor biopsy is not possible, after a confirmed diagnosis of cholangiocarcinoma based on a previous tumor biopsy

Staging of Cholangiocarcinoma

Your cholangiocarcinoma will be intrahepatic or extrahepatic, depending on where it is.

Doctors “stage” cancers so they can describe the features consistently and agree on the best treatment approaches. Your cancer stage is a score that describes your cancer. It will be used to make your treatment plan in conjunction with other information such as your overall health and tumor biomarker profile.

Staging for hepatobiliary cancers is based on:

  • T (tumor) score, which describes the size of the main (primary) tumor and whether it has grown into nearby areas
  • N (node) score, which describes whether the cancer has spread to lymph nodes and if it has, how many lymph nodes are affected
  • M (metastasis) score, which describes whether the cancer has spread to other places in the body.

The specific T, N and M scores that give the cancer stage are slightly different for intrahepatic and extrahepatic cholangiocarcinomas and gallbladder tumors. The next section is a general guide, but your doctor can give you more information about your cancer stage.

  • Stage I: the tumors are small, and have not spread to nearby blood vessels, lymph nodes or organs, or to distant organs.
  • Stage II: there may be more than one tumor, or a tumor may have grown into nearby blood vessels. The cancer has not spread to nearby lymph nodes or organs or to other places in the body.
  • Stage III: the tumor has grown into nearby blood vessels or organs. The tumor has spread to nearby lymph nodes, but it has not spread to other places in the body.
  • Stage IV: the tumor has spread to other places in the body (metastasized).

Another factor used in staging is the grade (G). A grade is assigned to your tumor based on how differentiated it is – how much the cancer cells look like normal cells under the microscope. If a tumor is well differentiated, it looks more like normal tissue than a poorly differentiated tumor. In general, poorly differentiated tumors tend to grow and spread more quickly than well-differentiated tumors.

The grading system is:

  • GX: grade cannot be assessed
  • G1: well differentiated
  • G2: moderately differentiated
  • G3: poorly differentiated

Knowledge Point

Cancer is said to be localized when it is confined to the organ where it started and has not spread to another place in the body.

Metastasis describes the spread of cancer to another part of the body. It usually happens when cancer cells break away from the main tumor and travel around the body in the bloodstream or lymphatic system to a different place. When the cells settle and start to grow in other organs, they form new tumors.

The new tumor is called a secondary, a metastasis or metastatic cancer. It has the same characteristics as the primary tumor, and is the same cancer type, even though it is in a different place. Cholangiocarcinoma that has spread to another place in the body (such as a lung) is still considered to be bile duct cancer (cholangiocarcinoma).

Whether cancer is localized (located only in one organ) or metastasized (spread to multiple areas of the body) makes a difference to the type of treatment that is recommended.


Information based on Fast Facts for Patients and Supporters: Cholangiocarcinoma (Karger, 2021).

Cholangiocarcinoma: Seeing Your Doctor & Who Is Who

This is the second part of our series about the condition based on our patient booklet “Fast Facts for Patient and Supporters: Cholangiocarcinoma”. This article focuses on:

  • seeing your doctor and
  • who is who regarding diagnosis and treatment of cholangiocarcinoma.

Seeing Your Doctor

If you see your doctor about your symptoms, you will probably also be asked about your family history, any medical problems affecting you now or in the past, medications you take and whether you smoke or drink alcohol. You will usually have a physical examination, too.

You may be asked for a sample of blood and/or urine. Tests on these samples may include:

  • a complete blood count (CBC) to look at the number and types of different cells in the blood (white blood cells, red blood cells and platelets)
  • a comprehensive metabolic panel (CMP), which is a package of tests that measure how well your kidneys and liver are working
  • tests for proteins (tumor markers) in the blood, as levels can be higher than normal in certain types of cancer.


Taking a blood sample


Your doctor may also recommend imaging. This involves taking pictures (or images) of the site where the cancer started. Other areas may also be checked to see if the cancer has spread.

Questions You May Want to Ask

About the Cancer

  • How many tumors are there in my liver or bile duct?
  • How much of my liver or bile duct is involved?
  • Are there any lymph nodes outside of my liver or bile duct with cancer in them?
  • Has the cancer spread to any other areas of my body?
  • If my tumor has been sent for biomarker testing, what are the findings?

About Care

  • Is my tumor is being discussed at a tumor board?
  • Who is in my multidisciplinary team?

About Treatment

  • What is the goal of my treatment?
  • What is the standard treatment for the type and stage of my cancer?
  • What are the potential side effects of the treatment being recommended? And how soon might I notice these?

Multidisciplinary Teams and Tumor Boards

Your treatment may be multidisciplinary, involving different types of doctor, as well as other health professionals such as nurses, dieticians and therapists.

Your treatment and care are also likely to be discussed at a tumor board (sometimes this has a different name). This is a meeting of doctors and other professionals involved in cancer tests where the test results of individual patients are discussed and treatment is planned.

Who’s Who?

  • Medical oncologist: a doctor who specializes in the treatment of cancer, typically with chemotherapy, targeted therapy or immunotherapy. A medical oncologist typically oversees the care of people with cholangiocarcinoma and coordinates between other specialists.
  • Radiation oncologist: a doctor who treats cancer using radiation therapy.
  • Gastroenterologist: a doctor who diagnoses and treats disorders of the gastrointestinal tract. An interventional gastroenterologist can place stents in the bile ducts to help the flow of bile.
  • Interventional radiologist: a doctor who specializes in carrying out procedures using imaging for guidance. An interventional radiologist may put a drain in place.
  • Surgeon: a doctor who performs surgery to remove a cancerous part of the liver or bile duct. The surgeon can be a surgical oncologist (specializing in cancer surgery), hepatobiliary surgeon (specializing in surgery on the liver and/or pancreas), liver transplant surgeon (specializing in transplanting livers) and/or a general surgeon (who performs different types of surgery).
  • Nurse: a person trained to assess individuals and provide education on treatment and symptom management. Nurses work closely with doctors to coordinate care.
  • Nutritionist or dietician: a health professional who is trained and certified to provide guidance on how and what to eat to help improve the diet.
  • Social worker: a person who may provide emotional or practical support by providing counseling or information on community resources, as well as guidance regarding financial and insurance issues.
  • Advanced practice clinician: a person trained as either a nurse practitioner or physician assistant. Advanced practice clinicians provide care under the supervision of the doctor, but they can see patients and prescribe medications independently.
  • Patient navigator: a person, who may also be a nurse, who helps with scheduling, obtaining materials for appointments and coordinating care.
  • Clinical trial/research coordinator: a person with a background in research or nursing who coordinates a person’s care if they take part in a clinical trial. The coordinator usually works on a specific clinical trial and oversees all logistical aspects of participating in that trial.


Please check out the first post of our series here:


Information based on Fast Facts for Patients and Supporters: Cholangiocarcinoma (Karger, 2021).

What Is Cholangiocarcinoma, How Does It Develop and What Are Its Symptoms?

This is the first part of our series about the condition based on our patient booklet “Fast Facts for Patient and Supporters: Cholangiocarcinoma”. This article focuses on:

  • What is cholangiocarcinoma?
  • How does cholangiocarcinoma develop?
  • What are the symptoms of cholangiocarcinoma?


Cholangiocarcinoma is a cancer of the body’s hepatobiliary system, which includes the liver, gallbladder and tubes called bile ducts.

The hepatobiliary system makes, stores and transports bile. Bile helps the body break down fat in the diet and get rid of waste from the body.



The liver makes bile, which is collected in small tubes (ductules) and funneled into increasingly larger ducts as it is carried through the liver. As the bile leaves the liver, the duct system merges into left and right hepatic ducts. These two ducts leave the liver and join at the hilum to form the common hepatic duct.

The gallbladder stores bile. It connects to the hepatobiliary system about one-third of the way down the common hepatic duct, via the cystic duct. This duct is now called the common bile duct, and it continues through the pancreas before reaching the small intestine (the destination for the bile).

There are two main types of cholangiocarcinoma: intrahepatic and extrahepatic.

  • Intrahepatic cholangiocarcinoma occurs in the bile ducts inside the liver.
  • Extrahepatic cholangiocarcinoma occurs in the bile ducts outside the liver. These drain bile into the small intestine.

A perihilar tumor is an extrahepatic cholangiocarcinoma that develops at or near the junction of the left and right bile ducts (the hilum). These tumors were previously called Klatskin tumors.

A distal tumor develops in the common bile duct.

Cholangiocarcinomas are rare tumors, accounting for only about 3 in every 100 cancers in the gastrointestinal system. Perihilar tumors are the most common type of cholangiocarcinoma (approximately half), followed by distal tumors (approximately 4 in every 10), and intrahepatic tumors (approximately 1 in every 10).


Location of intrahepatic and extrahepatic cholangiocarcinoma


Development of Cholangiocarcinoma

The starting point for cholangiocarcinoma is a harmful change (mutation) to the DNA in cells in the bile duct. One of the effects is that cells start to grow and divide without the usual controls. Eventually, a mass of cells forms a tumor.

Doctors do not know exactly what causes the changes in the DNA, though some medical conditions and lifestyle factors increase the risk.

Mutated cells grow and eventually form a tumor

Medical conditions and lifestyle factors that increase the risk
• Bile duct: primary sclerosing cholangitis, primary biliary cirrhosis, bild duct stones or cysts
• Digestive system: infllammatory bowel disease (Crohn's disease or ulcerative colitis), chronic pancreatitis
• Diabetes
• Chronic liver disease: cirrhosis, hemochromatosis, fatty liver disease (non-alcoholic fatty liver disease or non-alcoholic steatohepatitis), hepatitis B or C
• Obesity
• Smoking
• High alcohol intake
• Infection with liver fluke (a problem in some South-East Asian countries)

Symptoms of Cholangiocarcinoma

The symptoms of cholangiocarcinoma can vary from person to person. Intrahepatic and extrahepatic cholangiocarcinomas may cause different symptoms. If the tumor blocks the flow of bile, infections can cause fever, chills and yellowing of the skin and eyes (jaundice).

Intrahepatic Cholangiocarcinoma

Symptoms may be caused by the tumor mass in the liver. Abdominal pain, bloating, weight loss, fatigue, jaundice, itching, or sweats at night are common symptoms.

If symptoms are mild or absent, the cancer may be discovered by chance during blood tests, imaging or surgery for other reasons.

Extrahepatic Cholangiocarcinoma

The skin or eyes may become yellow (jaundice) and the skin may become itchy. Urine color may be darker than usual. Stools may become pale. A person may feel fatigued (extremely tired) and lose weight.

Symptoms of cholangiocarcinoma


Information based on Fast Facts for Patients and Supporters: Cholangiocarcinoma (Karger, 2021).

Cutaneous Squamous Cell Carcinoma: How Can You Help Yourself?

This is the sixth part of our series about the condition based on our patient booklet “Fast Facts for Patients and their Supporters: Advanced Cutaneous Squamous Cell Carcinoma”. This article lists questions to ask your doctor and how you can help yourself as well as deal with your feelings.

Asking Questions

Everyone deals with cancer differently. You may want to collect detailed information and research your cancer, or you may prefer to trust your medical team to guide you. Being informed will help you have better conversations and make decisions about your treatment and care.

Some conversations with your doctor may involve a lot of new information and questions. Bringing a family member or friend and taking notes can help you to take in this information and make decisions.

Ask the questions that are bothering you, and if you are not sure about any aspect of your treatment, ask again. Don’t be afraid to ask for a second opinion – it’s absolutely acceptable. Make a note of the health professionals in your medical team.

Questions to Ask Your Doctor about Your Treatment

If you’re having surgery:

  • What are the risks of this procedure?
  • Should I stop any of my medications before surgery?
  • What can I expect after my surgery?
  • Will I need help at home during my recovery?

If you’re having radiation therapy:

  • What are the risks of radiation?
  • How many treatments will I have?
  • What can I expect during my radiation therapy?
  • Will I need help at home?

If you’re having systemic treatment:

  • Which treatment is right for me?
  • Will I have to come to the hospital for intravenous treatment? How often?
  • How will we know if the treatment is working?
  • How will I feel during treatment?
  • Will I need help at home?

What Can You Do to Help Yourself?

Previously we have looked at what cutaneous squamous cell carcinoma is, the symptoms, how to diagnose it and how to treat it. But you need to take care of both your body and mind during your cancer treatment and recovery.

So what can you do? Here are some helpful examples below. Whatever you do, especially physically, do it in moderation. Always ask your doctor if you are concerned.

  • Eat a balanced and varied diet of healthy vegetables, fruits, chicken and fish – cut down on fats, carbs and sweets.
  • Try to exercise regularly – even a daily walk will help your physical strength (if you have challenges with walking and balance, discuss this with your doctor).
  • Continue to check your skin for new lesions, and protect yourself from the sun with sunscreen, hats and clothing.
  • Get outdoors – fresh air and sunlight (with sunscreen, of course!) will have a positive effect on your mood.
  • If you smoke, try to cut down or stop.
  • If your doctor says that it’s ok to drink alcohol, do so in moderation.
  • Consider meditation, yoga or relaxation techniques to calm the mind if you are feeling stressed.
  • Find small things to be appreciative of every day.
  • If you are religious, your community can help support you.
  • Think about joining a support group – it’s helpful to talk to other people going through the same thing; find details on the internet or ask your cancer center.

Your Feelings

There is no right or wrong way to feel about your illness and the future, but it may help to:

  • Focus on what is important to you.
  • Spend time with your loved ones.
  • Make plans ahead of time for you and your family.
  • Keep to your usual routines to maintain a sense of normality.
  • Accept that there will be good days and bad days.
  • Ask your medical team about options for social and emotional support as well as physical support.


Please check out the other posts of our series here:


Information based on Fast Facts for Patients and their Supporters: Advanced Cutaneous Squamous Cell Carcinoma (Karger, 2020).

Cutaneous Squamous Cell Carcinoma: How Is It Treated?

This is the fifth part of our series about the condition based on our patient booklet “Fast Facts for Patients and their Supporters: Advanced Cutaneous Squamous Cell Carcinoma”. This article lists the treatment options for cutaneous squamous cell carcinoma (cSCC).



Wide Local Excision

The aim of wide local excision is to remove the cancer and an area of normal skin around the cancer, and then reconstruct the skin and surrounding area.

The area of normal skin is called the margin and it is sent to the laboratory to check for signs of cancer. If the margin is clear, it is likely that all the cancer has been removed. The pathologist will also check for high-risk features in samples of the cancer.

Wide local excision

Mohs Micrographic Surgery

Mohs micrographic surgery is used for some locally advanced cancers. During surgery, layers of skin are removed and checked for cancer. This continues until all the cancer has been removed.

Mohs micrographic surgery

Radiation Therapy (Radiotherapy)

Sessions of radiation therapy might be recommended:

  • to prevent advanced cSCC from returning after it has been completely removed with surgery (adjuvant therapy), or
  • to treat any remaining cancer cells if the cancer cannot be completely removed with surgery, or
  • to treat advanced cSCC that cannot be treated with surgery (definitive therapy), or
  • if it can help relieve pain or symptoms of incurable cSCC (palliative radiation).

First, a customized mask or mold is made. This is worn during each treatment so that you are in the same position every time. Then images are taken and treatment is planned. Tiny markings or tattoos may be needed to make sure you are in the same position every time.

Radiation therapy (radiotherapy)

Side Effects

Side effects can include fatigue, loss of appetite, skin changes or hair loss. If your head or neck is involved, you may develop mouth sores, changes in taste, tooth decay or trouble swallowing.

Systemic Treatment

Systemic treatment is needed if cSCC has spread throughout the body. Your treatment will be prescribed by a specialist in medical cancer treatment (oncologist). Talk to your oncologist about your treatment options, and the risks and benefits of each choice.


This kills the cancer cells directly. Potential side effects include: nausea, vomiting, loss of appetite, hair loss, fatigue, anemia (low level of red blood cells), risk of infection, hearing changes/ringing in ears, neuropathy (numbness and tingling in hands and feet).

Targeted Molecular Inhibitors

These kill cells by blocking specific cancer behaviors. Potential side effects include: rash, eye changes, diarrhea, nausea, decreased appetite, constipation, neutropenia (low white blood cell counts), risk of infection, liver problems, lung problems.


This overcomes the way cancer hides from the body’s immune system so the body’s immune defenses work against the cancer cells. Potential side effects include: fatigue, rash, diarrhea, nausea, decreased appetite, constipation, muscle aches, autoimmune problems.


Please check out the other posts of our series here:


Information based on Fast Facts for Patients and their Supporters: Advanced Cutaneous Squamous Cell Carcinoma (Karger, 2020).

Types of Metastatic Cutaneous Squamous Cell Carcinoma

This is the fourth part of our series about the condition based on our patient booklet “Fast Facts for Patients and their Supporters: Advanced Cutaneous Squamous Cell Carcinoma”. This article deals with the types of metastatic cutaneous squamous cell carcinoma.

Metastatic Cutaneous Squamous Cell Carcinoma

Why Does cSCC Spread?

It is rare for cSCC to spread to another place in the body. But there are some high-risk features of the primary cSCC that make this more likely, including:

  • large size (over 2 cm)
  • cancer recurs (comes back) in the same location after surgery
  • it affects the ear or lip.

There are also some features that can be seen in the laboratory from the biopsy:

  • the nerves are involved
  • the cancer cells are poorly differentiated, which means they appear spindle shaped or different from usual cancer cells
  • the cancer has created a different-looking area around itself (called desmoplasia)
  • the cancer has grown (invaded) deeply through the skin to the fat, muscle or bone underneath.

cSCC is also more likely to spread in a person whose immune system is suppressed – which happens with some conditions, such as leukemia, lymphoma and HIV/AIDS, and after an organ transplant.

What Are the Different Types of Metastases?

Regional and In-Transit Metastasis

The lymphatic system is made up of small vessels and lymph nodes. It runs through the body alongside blood vessels. (Lymph nodes = “glands”.)

It’s an important part of the immune system as it provides a way for immune cells to circulate around the body.

When cSCC spreads, or metastasizes, to other parts of the body, it typically travels through the lymphatic system or the bloodstream.

Spread of cutaneous squamous cell carcinoma through the lymphatic system or the bloodstream

cSCC cells that invade the lymphatic system can travel to the lymph nodes and grow there. When the affected lymph node is close to the original tumor, it’s called regional metastasis.

Very rarely, cSCC spreads through the lymphatic system and grows in multiple tumors under the skin along the lymphatic route. This is called in-transit metastasis.

Spread of cutaneous squamous cell carcinoma via the lymphatic system (in-transit metastasis)

Distant Metastasis

Distant metastasis happens when cSCC cells travel past the regional lymph nodes to lymph nodes or organs in other places in the body, as shown on the diagram:

Distant metastasis in cutaneous squamous cell carcinoma

The position of the primary tumor influences where the cancer will spread, but it’s not always possible for doctors to predict where it will appear.

If you have been diagnosed with distant metastasis, you can see and note the position on the metastatic cancers on the diagram.


Please check out the other posts of our series here:


Information based on Fast Facts for Patients and their Supporters: Advanced Cutaneous Squamous Cell Carcinoma (Karger, 2020).


Staging of Metastatic Cutaneous Squamous Cell Carcinoma

This is the third part of our series about the condition based on our patient booklet “Fast Facts for Patients and their Supporters: Advanced Cutaneous Squamous Cell Carcinoma”. This article explains the staging of cutaneous squamous cell carcinoma.

Cancer staging is a way of describing how much a cancer has grown or spread. Staging your cSCC will help your medical team share information with you about treatment options and your outlook.

cSCC is staged using a system called TNM:

  • T describes how advanced your Tumor is, from T1 (least advanced) to T4 (most advanced).
  • N describes whether your cSCC has spread to your lymph Nodes: N1 or higher means your lymph nodes contain cancer.
  • M describes any Metastatic cancer at places other than the lymph nodes: M1 means the cSCC has spread.

Your T, N and M scores are combined into your overall stage. Tumor in situ or Tis means there are abnormal cells present, but the cancerous cells are confined to the epidermal layer and have not invaded the dermis.

Staging Procedures Are not Always Needed

Not all cSCCs need imaging or sentinel lymph node biopsy – it depends on the initial features. If the risk of the cancer spreading is low, it  may be that the risks of imaging or biopsy outweigh any benefit.

Working Out Your Cancer Stage

T score

N score

M score and tumor staging


Please check out the other posts of our series here:


Information based on Fast Facts for Patients and their Supporters: Advanced Cutaneous Squamous Cell Carcinoma (Karger, 2020).

How Can Cutaneous Squamous Cell Carcinoma Be Diagnosed?

This is the second part of our series about the condition based on our patient booklet “Fast Facts for Patients and their Supporters: Advanced Cutaneous Squamous Cell Carcinoma”. This article explains how cutaneous squamous cell carcinoma can be diagnosed.

What Is a Biopsy?

A biopsy is a procedure to remove a sample of tissue from an area. The sample will be sent to a laboratory to get more information about the types of cell in the sample – for example, a pathologist can look at them under the microscope to see what types of cell are involved. Often, samples of lymph nodes are also taken. Lymph nodes are important collection sites for cancer cells. They can be the first place to show signs that the cancer is spreading.

Taking a Skin Biopsy for Diagnosis

A primary cutaneous squamous cell carcinoma (cSCC) usually appears as a new lump or sore on the skin and is diagnosed by a skin biopsy. This is a minor procedure carried out in your doctor’s office, often at the same appointment as your skin check. The doctor will clean the skin and inject a small amount of local anesthetic to numb it. A sample of the growth is removed, and the doctor will either put in a few stitches or allow the area to heal without stitches. In most cases, the biopsy is enough to make the diagnosis and plan treatment, which is normally surgery. In this case, no other tests are necessary.

Skin punch biopsy and shave biopsy for diagnosis

Additional Biopsies That May Be Performed

Needle Biopsy

If you or your doctor feels a deeper lump under your skin, or if your imaging shows a suspicious lump in one of your lymph nodes, a needle biopsy or fine needle aspiration can be used to take a sample from the area. The doctor will clean the skin and inject a small amount of anesthetic to numb it. If the lump is difficult to feel, he or she might use ultrasound to help find it. A needle is put into the skin to collect a sample of cells from the lump. This may be repeated several times. Once the biopsy is complete, it will be sent to the laboratory. Ask your doctor when you can expect to hear the results.

Needle biopsy or fine needle aspiration

Sentinel Lymph Node Biopsy

Sentinel lymph node biopsy is used to see whether your cSCC has spread into your lymphatic system – the sentinel nodes are the first lymph nodes that would be affected if your cancer is spreading. To identify the sentinel lymph nodes, a radioactive tracer, a blue dye or both will be injected into the area of the primary cSCC. The radioactive tracer is injected a few hours or a day before surgery. The blue dye is usually injected during surgery. The dye or tracer travels through the lymphatic system to the nearby lymph nodes. Your surgeon will detect the tracer from its radioactivity, while the dye will turn the lymph nodes blue. Once the sentinel lymph nodes have been identified, one or more will be removed and sent to the laboratory to look for tumor cells. The risks of this procedure depend on the position of your cancer and the lymph nodes. Talk to your surgeon about what it might mean for you.

Sentinel node biopsy

Other Types of Tests

Previously we have looked at how a biopsy can help confirm a diagnosis. But other tests are sometimes helpful for advanced cSCC. These are the work up or staging tests, and they can help with planning surgery. Or they may be recommended after surgery to see if more treatment is needed.

Imaging (Scans)

The type of imaging you have depends on your individual cancer. Some people don’t need it.

Computerized Tomography (CT) Scan

A CT scan (or sometimes “cat scan”) involves taking a series of X-rays to give a cross-sectional picture of the body. CT scans are used to see if cSCC has spread to lymph nodes or has grown into the bone.

Magnetic Resonance Imaging (MRI)

MRI builds up a picture of an area using a magnetic field. Like CT, it gives a cross-sectional picture.

Positron Emission Tomography (PET) Scan

Before a PET scan, a radioactive tracer is delivered into a blood vessel. The tracer spreads through the body, building up at places where cancer cells are present. This is detected by the scanner. PET scans are used to see if the cancer has spread. Often a person has a PET scan and CT scan or MRI.


Ultrasound uses high-frequency sound waves. It’s used to see if cancer has spread to the lymph nodes or to check lymph nodes after surgery.


Please check out the first post of our series here:


Information based on Fast Facts for Patients and their Supporters: Advanced Cutaneous Squamous Cell Carcinoma (Karger, 2020).

What Is (Advanced) Cutaneous Squamous Cell Carcinoma?

This is the first part of our series about the condition based on our patient booklet “Fast Facts for Patients and their Supporters: Advanced Cutaneous Squamous Cell Carcinoma”. This article focuses on what cutaneous squamous cell carcinoma and advanced cutaneous squamous cell carcinoma are.

First, The Facts

  1. Cutaneous squamous cell carcinoma (shortened to cSCC) is typically treated with surgery, without the need for other treatment.
  2. cSCCs that are large, have high-risk features under the microscope or come back after surgery are more likely to need additional tests or treatments.
  3. A cSCC is called “advanced” if it grows into (invades) areas below the skin or spreads to other parts of the body.
  4. Diagnosis of advanced cSCC involves looking at biopsy samples of skin and lymph nodes under the microscope and also sometimes scans or images of the area.
  5. Advanced cSCC is treated with surgery, radiation treatment or drugs, or a combination of these.
  6. If treatment is unsuccessful, palliative care helps to relieve the symptoms of cancer.

What Is Cutaneous Squamous Cell Carcinoma?

  1. Cutaneous squamous cell carcinoma (cSCC) is a type of cancer that grows in the outermost layer of the skin (cutaneous = of the skin). This outer layer of skin is called the epidermis. It is the body’s barrier against the environment.
  2. cSCC is a non-melanoma skin cancer. It differs from melanoma, which comes from a different kind of cell, a melanocyte.

Squamous cell carcinoma and basal cell carcinoma

  1. cSCC is more common in older, fair-skinned men. People who develop freckles or burn easily in the sun have a higher risk, as do people who have spent lots of time outdoors or have used indoor tanning beds.

Normal squamous cells in the skin and development of cancer

Because cSCC is caused by sunlight, it is common for patients with lots of sun damage to their skin to have more than one cSCC. Having more than one cSCC in an area of sun damage is not the same as having a cSCC that has spread to other parts of the body. 

Actinic keratosis, squamous cell carcinoma in situ and invasive cutaneous squamous cell carcinoma

 Some medications increase sun sensitivity and cancer risk. And some people’s immune systems do not work effectively, making cSCC more likely.

Questions You May Have …

Is cSCC contagious?

  • cSCC is not contagious – you can’t catch it from someone else. And you can’t spread it to anyone else, either.

Did I inherit cSCC from my parents?

  • Yes and no; If you have fair skin or light-colored eyes or hair, you inherited those risk factors for cSCC from your parents. But cSCC is not usually considered to be a genetic condition. There are exceptions where cSCC develops because the person has a very rare genetic condition such as xeroderma pigmentosum or oculocutaneous albinism. These conditions make the person more likely to develop cSCC. But in most people, cSCC is not directly related to an inherited genetic disease.

What Is Advanced cSCC?

The cSCC that’s diagnosed first is called a primary cSCC. It’s usually an isolated cancer on the skin and can be removed by surgery.

But in some cases, the cancer can be more aggressive and is said to be advanced. An advanced cSCC is either:

  • locally advanced, meaning it has grown very large or is complicated to remove, or;
  • metastatic, meaning it has spread to other places.

What Is My Advanced cSCC Timeline?

The timeline is different for each person. In some people, a primary cSCC is treated with surgery but the cancer later comes back in the same place; this is called a recurrent cancer. Other people are diagnosed with both primary and metastatic cSCC at the same time. And some people are diagnosed with metastatic cSCC in other parts of the body years after the primary cSCC was treated.

Local Invasion

There are two main types of local invasion:

  • Locally advanced cSCC can grow into nearby healthy areas. This may include the underlying fat, muscle or bone – it depends on the location of the cancer. The cancer can also affect a nearby body part such as an eye or an ear.
  • Perineural invasion: Locally advanced cSCC can also grow into the nerves of the skin or along the sleeve or sheath that surrounds nerves. This is called perineural invasion, perineural spread or perineural metastasis.


Information based on Fast Facts for Patients and their Supporters: Advanced Cutaneous Squamous Cell Carcinoma (Karger, 2020).

Stem Cell Transplantation for Myeloma

This is the fourth and last part of our series about the condition based on our patient booklet “Fast Facts for Patients and their Supporters: Myeloma”, which is freely available online. This article deals with the possibilities of stem cell transplantation.

For patients who are considered fit enough (those younger than 65 years in many countries; 75 years in the USA), the combination of autologous stem cell transplantation (ASCT) and chemotherapy can produce long symptom-free periods. About 35% of newly diagnosed patients are considered eligible for this treatment. Patients whose genetic assessment suggests they have a standard risk of disease progression tend to get better outcomes with this treatment than those at higher risk.

What Is ASCT?

Stem cells are an early form of blood cell made in the bone marrow, which can develop into white blood cells (including the plasma cells affected in myeloma), red blood cells or platelets. In ASCT, your own stem cells are harvested (‘autologous’ means coming from your own body) when you are symptom free (remission). The cells are then used to produce new, healthy, plasma cells.

Stem cells produced in the bone marrow can develop into red blood cells, white blood cells or platelets.

Stem cell production in the bone marrow


Autologous stem cell transplantation (ASCT)

Once your myeloma is under control, you may be offered long-term maintenance therapy as part of a clinical trial to prolong the remission period for as long as possible. Your doctor will be able to advise you about this.

Can Stem Cells Be Taken From A Donor?

The use of donor stem cells (allogeneic stem cell transplantation) is being investigated in myeloma (only a small number of people receive this treatment outside clinical trials). However, this approach has so far been much less successful than it has been in the treatment of leukemia. This may change as new conditioning therapies become available. Also, this procedure is largely suitable for people under 50 years of age, who make up less than a quarter of myeloma patients.


Please check out the other posts of our series here:


Information based on Fast Facts for Patients and their Supporters: Myeloma (Karger, 2017).

Myeloma: What Treatment Will I Receive?

This is the third part of our series about the condition based on our patient booklet “Fast Facts for Patients and their Supporters: Myeloma”, which is freely available online. This article shows how you will be treated for myeloma as well as the treatment options if myeloma returns.

Although there is no cure for myeloma yet, modern treatments can control the disease for long periods. 1 in 3 patients now live for 10 years or more.

How Will I Be Treated?

If you have myeloma that is causing symptoms, you will be offered treatment.

Treatment of myeloma with and without symptoms

The choice of initial treatment (also called induction therapy) will depend on:

  • the myeloma stage
  • genetic features
  • your kidney function
  • your general health.

Your doctor will discuss the options with you, so that you can make an informed decision about what is best for you. You may decide that you do not want to receive any treatment, in which case you can still receive supportive (palliative) care to control myeloma symptoms.

What Are the Options?

Initial therapy for myeloma usually consists of drug therapy to bring the disease under control (in other words, to induce remission). You may also be offered radiation treatment to control pain.

Depending on your general health and the nature of your myeloma, you may be offered further therapy (known as consolidation therapy), consisting of high-dose drugs and autologous stem cell transplantation (ASCT – you can find more details of this on pages 17 and 18). If your doctor feels that you are not suitable for ASCT, you may be offered further drug treatment to keep your symptoms under control.

The main types of drugs used in the treatment of myeloma are:

  • chemotherapy drugs, which stop cancerous cells from dividing and reproducing
  • biological therapies that target specific proteins inside or on the surface of cancer cells, blocking their growth and spread while limiting the damage to healthy cells
  • steroids, which can help kill myeloma cells and increase the effects of chemotherapy or biological drugs.

A combination of drugs is usually given. 4–8 cycles of chemotherapy is usual. You will have a few days of treatment at a time with rest periods in between. You will normally be treated as an outpatient, although in some cases you may need to spend a short time in hospital.

What If I Have Other Medical Conditions?

Because myeloma mainly affects older people, many patients may have other medical conditions, such as heart trouble, diabetes, high blood pressure (hypertension) or lung disease. If this is true for you, you should be aware that these conditions may be affected by your myeloma or by the treatment used for this condition. For example:

  • medicines used to treat myeloma can make blood pressure control and blood sugar control more difficult
  • patients with lung problems may feel more fatigued or short of breath during therapy.

You can still live an active life with myeloma, despite these other medical problems, but you may need to see your doctor more often to make sure they are still well controlled.

Treatment When Myeloma Returns

Although current treatments for myeloma are very effective at inducing remission, there is no cure for the disease. This means that the disease will eventually return after a period of months or years (relapse).

Unfortunately, in some cases, myeloma may eventually develop to the point where it does not respond well to any of the standard treatments. This is called refractory myeloma. In this case, different combinations of drugs may be tried, or your doctor may suggest that you enter a clinical trial of a new treatment under investigation.

Treatment of myeloma after remission/relapse

The following factors will determine what therapy you receive at any given point in time:

Factors determining the type of myeloma treatment

What Are the Treatment Options?

The choice of treatment will depend on a combination of these factors, and your doctor will discuss these with you.

  • Depending on your original treatment, it may occasionally be possible to repeat this.
  • You may be offered treatment with bortezomib, lenalidomide or thalidomide and steroids, often in some form of combination.
  • You may be able to enter a clinical trial of a new drug or drug combination.
  • In some cases, a second course of high-dose chemotherapy with autologous stem cell transplantation (ASCT) after another course of induction therapy may be possible.

Supportive Care for Myeloma

Specialist doctors and nurses are experienced in treating blood cancers like myeloma and will advise you on the best treatment for you.

Treatment of Symptoms

As well as treatment for the myeloma itself, you will also be offered treatment for the symptoms of the disease, to help you live as normal a life as possible. This supportive care will include:

  • treatment of pain
  • treatment of high calcium levels
  • preventing or treating blood-related problems
  • dealing with kidney problems.

Always remember the benefits of eating well and exercising.

Treatment of Pain

You will be given appropriate painkilling drugs. You will also be given a type of drug called a bisphosphonate, which strengthens weakened bone and reduces bone pain. Very severe bone pain or pain from spinal cord compression may also be treated by radiotherapy or surgery.

Treatment of High Calcium Levels

High levels of calcium in the blood can make you feel sick, drowsy, confused or unwell. Your doctor may advise you to drink plenty of fluids to help your kidneys remove the calcium from your blood. Bisphosphonate drugs may also be used to lower high calcium levels.

Preventing or Treating Blood-Related Problems


You may feel tired as a result of anemia caused by a reduced number of red blood cells in your blood. Your doctor may suggest a blood transfusion or, if you have kidney problems, anemia may be treated with a drug called erythropoietin, which is produced in the kidneys and increases the formation of red blood cells.

What you can do: Make a note of when you feel run down, how well you are sleeping and changes in your diet or physical activity that change how you feel. Discuss these with your doctor.

Risk of Infection

Because myeloma lowers white blood cell counts, making you more likely to get infections, your doctor may offer you drugs to prevent infections (prophylactic drugs), and may also advise you to have vaccinations, for example against flu.

What you can do: Don’t hide yourself away, but use your commonsense to minimize the risk of infection, including good hygiene practices.

Blood Clots

Myeloma also increases your risk of developing a blood clot (thrombosis), and your doctor may offer you drugs to prevent this. Also, in very rare cases, a build-up of paraprotein in the blood can make the blood become thicker than normal – this is called hyperviscosity. If this happens, you may need to undergo a procedure called plasmapheresis, which filters the excess paraprotein from the blood.

Dealing with Kidney Problems

If your kidneys are affected by myeloma, you may be given an infusion of fluids to help the kidneys clear the waste products out of your system. You will also be encouraged to drink plenty of fluids for the same reason and to avoid drugs that affect the kidney. Rarely, myeloma can cause the kidneys to stop working, in which case waste products will need to be removed from your blood by kidney dialysis.

End of Life Care

Although many people can live with myeloma for years, there may come a time when your diseases progresses to a point where you are likely to die from it. As always, your myeloma team will be there to offer you (and your family) support and to make you as comfortable as possible. You may also want to talk to a trained counsellor or minister of religion.


Please check out the other posts of our series here:



Information based on Fast Facts for Patients and their Supporters: Myeloma (Karger, 2017).

What Are the Types and Effects of Myeloma?

This is the second part of our series about the condition based on our patient booklet “Fast Facts for Patients and their Supporters: Myeloma”, which is freely available online. This article addresses the types and effects of myeloma.

What Type of Myeloma Do I Have?

Myeloma can take a number of different forms, depending on the type of abnormal antibody (also known as immunoglobulin) produced by the myeloma cells. All antibodies have two light chains and two heavy chains: different types of antibody have different heavy chains (G, A, M, D or E) and light chains (kappa or lambda). Plasma cells in patients with myeloma secrete variable quantities of abnormal antibodies, called paraprotein, and/or free light chains.

Myeloma can take a number of different forms, depending on the type of abnormal antibody (also known as immunoglobulin) produced by the myeloma cells.

Two-thirds of people with myeloma produce type G immunoglobulin (IgG) and they are said to have IgG myeloma. The next most common is IgA, while the rest (IgM, IgD and IgE) are very rare. About 1 in 5 people with myeloma produce abnormal levels of the light chain component of the antibody (also called Bence Jones protein). These people are said to have light chain myeloma (you may also see this referred to as Bence Jones myeloma).

The type of myeloma that you have will not affect the treatment you are offered, but it can make a difference to how the disease affects you. For example, light chain myeloma is most likely to cause kidney damage. In other types of myeloma, tumors called plasmacytomas are occasionally found inside or outside the bones.

Precursor conditions that develop into multiple myeloma: There are two other conditions that affect plasma cells: MGUS and smoldering myeloma. Both of these conditions can develop into myeloma – but not always!

  • MGUS (monoclonal gammopathy of undetermined significance) is a precancerous condition in which a small number of myeloma cells (less than 10% of all plasma cells in the bone marrow) produce paraprotein. There are no other signs of myeloma. Only 1% of people with MGUS develop myeloma over the course of a year. Like myeloma, MGUS is most common in people over the age of 70.
  • Smoldering myeloma is sometimes also called indolent or asymptomatic (symptomless) myeloma. 10–60% of plasma cells in the bone marrow are myeloma cells, which produce paraprotein. There are no other signs of myeloma.

Up to 20% of patients with smoldering myeloma can progress to myeloma in the first 5 years of diagnosis. You will not need treatment, but you will need to have regular blood tests to check that the disease is not progressing quickly.

The correct diagnosis must be made as soon as possible to find out which condition you have because active myeloma can be treated.

What Are the Effects of Myeloma?

The buildup of abnormal myeloma cells in the bone marrow, and the effect of this on the production of normal blood cells, result in a number of symptoms and complications.

The symptoms and signs of myeloma are often referred to by the abbreviation SLiM CRAB.

SLiM CRAB as an abbreviation of the symptoms and signs of myeloma.

  • Sixty percent (60%) plasmacytosis (an unusually large proportion of plasma cells in tissues, exudates or blood).
  • Light chains – the serum free light chain ratio is greater than 100.
  • MRI – one or more focal lesion on the MRI scan.
  • Calcium levels increase in the blood (hypercalcemia), which can cause thirst, nausea, vomiting and confusion.
  • Renal (kidney) damage or problems with blood clotting may arise as a result of abnormal proteins (paraproteins) produced by the myeloma cells. This can make you tired, itchy, breathless, sleepy or not able to think straight. Abnormal cell production also increases the risk of infections.
  • Anemia (fewer red blood cells taking oxygen around the body) may make you look pale and feel tired or listless.
  • Bone damage caused by myeloma cells in the bone marrow can lead to pain, fractures, a curved spine (spinal cord compression) and/or nerve problems.

The symptoms and complications of myeloma can affect multiple sites in the body.

Symptoms and complications of myeloma

The control of these symptoms and complications will be an essential part of your treatment.

Remember: the symptoms of myeloma may not be present all the time.

You may have long periods when the disease does not cause any symptoms (remissions), and periods when you do have symptoms that need to be treated (relapses). In other words, myeloma is a relapsing-remitting form of cancer.

Plan for your remissions and the things you’d like to do.


Please check out the other posts of our series here:


Information based on Fast Facts for Patients and their Supporters: Myeloma (Karger, 2017).

What Is Myeloma, How Is It Diagnosed, Who Gets It, and Why?

This is the first part of our series about the condition based on our patient booklet “Fast Facts for Patients and their Supporters: Myeloma”, which is freely available online. This article focuses on:

  • What is myeloma?
  • How is myeloma diagnosed?
  • Who gets myeloma and why?

What Is Myeloma?

Myeloma is a cancer that affects a type of white blood cell called a plasma cell. Normally, the production of plasma cells in bone marrow is tightly controlled. In myeloma, this control is lost and large numbers of abnormal plasma cells, called myeloma cells, are produced instead.

Production of blood cells in myeloma

The increase in the number of myeloma cells interferes with the production of other types of blood cell in your bone marrow. The myeloma cells divide in the bone marrow and release proteins that affect different parts of the body. For this reason, the disease is sometimes called multiple myeloma.

Healthy bone marrow with normal plasma cells and unhealthy bone marrow with abnormal plasma cells (myeloma cells)

How Is Myeloma Diagnosed?

Myeloma is one of the most difficult cancers to detect. For many people, the first step towards diagnosis is a visit to their family doctor (GP) because of symptoms such as tiredness, pain or recurrent infections. These symptoms are not specific to myeloma, so myeloma may not be considered until the patient has seen a doctor several times. Others may be diagnosed after admission to hospital with more severe problems, such as fractures, kidney problems or spinal cord compression.

The diagnosis of myeloma is usually made by a specialist in blood disorders, a hematologist, who will look at the results of blood and urine tests, a bone marrow biopsy and X-rays.

  • Blood and urine tests measure how much abnormal protein (paraprotein) or light chains you have in your body, the level of calcium in your blood and the number of normal blood cells. They also show how well the kidneys are working.
  • A bone marrow biopsy will be taken if you have paraproteins in your blood or abnormally high levels of light chains in your blood or urine. A needle will be inserted into a prominent part of your pelvic bone (not your hip or spine) to extract a sample of bone marrow, which is then examined under a microscope to see if there are any abnormal cells. The biopsy is usually done under local anesthetic, and takes about 15–20 minutes. You may be offered a mild sedative to make you feel more comfortable while the biopsy is taken. You may feel bruised or ache for a few days afterwards, but mild painkillers should help with this. You may need further biopsies (for example, after treatment to confirm remission).
  • X-rays may be useful to look for signs of damage to the bones.

Bone marrow biopsy

Depending on the results of these initial tests, your doctor may suggest further scans to show the presence and extent of myeloma in your body. You may be given an injection of dye before the scan starts, so that certain structures show up more clearly on the scan. You should let your doctor know if you are asthmatic or allergic to iodine, because these could cause a reaction to the dye. The scans will produce a detailed picture of certain areas, such as your spine or, occasionally, your whole body.

Magnetic resonance imaging (MRI) uses a powerful magnetic field to create a detailed image. You will need to lie motionless inside a cylindrical tube for about 30 minutes. It can be noisy inside the machine. Patients with bone damage can find it painful. Check with your doctor about the use of painkillers or anxiolytics (to reduce anxiety) before the procedure takes place.

Computed tomography (CT) involves taking a series of X-rays, which are combined by computer software to build up a 3D image of the inside of your body. This may take up to half an hour.

Who Gets Myeloma and Why?

  • Myeloma is a relatively rare cancer, accounting for only 1–2% of all cancers. The exact cause is not yet known, but is likely to be a combination of the following risk factors, which are unique to each individual.
  • Older age: more than 4 in 10 people with myeloma are over 75 years of age.
  • Family history: early data suggest that a close relative with myeloma (e.g. a parent, brother or sister) increases the risk slightly, but environmental risk factor(s) probably need to be present as well.
  • Exposure to radiation (X-rays, background, atomic), chemicals and viruses
  • MGUS (monoclonal gammopathy of undetermined significance): on average 1% of people with this condition develop myeloma in the course of a year, but all myeloma cases arise from MGUS
  • Race: almost 10 times more common in African / African Caribbean people than in white people. Less common in Asian people
  • Obesity
  • Male sex: slightly more common in men than women


Please check out the other posts of our series here:


Information based on Fast Facts for Patients and their Supporters: Myeloma (Karger, 2017).

9 Frequently Asked Questions about Colonoscopy

A colonoscopy is an exam used to detect changes in the large intestine (colon) and rectum. It can be used to investigate signs and symptoms of intestinal problems, to monitor for early tell-tale signs of colon cancer, and to look for polyps in order to reduce the risk of colon cancer.

Before colonoscopy you will need to follow specific instructions for cleaning out the bowel so that the camera at the end of the colonoscope will be able to give clear images of the bowel wall.

How is the test done? If you wish, you will be sedated. You will then be asked to lie on your side. A flexible tube about the diameter of a finger is inserted through the anus into the rectum and around the colon. Samples (biopsies) of the lining can be taken through the tube for examination.

Please note that Colorectal Cancer Awareness Month is held in March each year.


Reasons for colonoscopy


How long does the procedure take?

It is a day-case procedure. It takes about 15–30 minutes but plan to spend 2–3 hours to include recovery time.


How do I prepare for a colonoscopy?

Careful preparation is essential for a successful examination. If your bowel is not cleaned out before the exam, the doctor will not be able to detect any problems. You will be prescribed an oral laxative (a ”bowel prep”) to clean out your bowel. This usually means drinking a certain amount of fluid to flush out the bowel. Read your prep instructions carefully so that you know what you should do the day before and on the day of the test.


Is the test uncomfortable?

Not usually, but you can minimize any discomfort (for yourself and for your doctor) if you clean out the bowel fully. A short-acting sedative is usually given intravenously. This is not general anesthesia and you will not be unconscious, but most patients are comfortable. You will not be allowed to drive after the sedative and will need to arrange for a driver to take you home.


Is colonoscopy covered by private insurance?

Most insurance companies cover colonoscopy if it is performed for conventional reasons.




Are there any complications or risks?

It is generally safe, but there are risks associated with the procedure and with the sedation, which are uncommon. Perforation or puncture of the bowel is the most serious risk but is rare. Bleeding may occur at the site of a biopsy or if a polyp is removed.

Some patients react adversely to the sedation, but you will be monitored for this and an antidote can be used. If you have any concerns that there is something wrong after the test, you should contact your doctor or return to the hospital.


Will the drugs I’m on affect the test?

Most medications do not affect colonoscopy. However, if you are on insulin, your dosage may need to be adjusted because you will need to fast for several hours before the procedure. If you take blood-thinning drugs, they may have to be stopped or adjusted before the procedure to allow for biopsy and/or polyp removal. Discuss this with your doctor.


Can I go back to work the next day?

Yes. You will need to take a day off work to have the procedure. Some patients who work evenings also take off the day before the procedure to do the bowel prep.


Does menstruation affect colonoscopy?

No. Tampons can be worn if you wish and will not affect the procedure.


When will I get the results?

Your doctor will be able to give you a provisional result after the test, but the results of the biopsies can take several days. You will be asked to see your doctor to discuss the test results on another day.


Information based on Fast Facts for Patients and their Supporters: Inflammatory Bowel Disease (Karger, 2019).

Treating Pyruvate Kinase Deficiency: Managing the Complications

This is the fifth part of our series about the condition based on our patient booklet “Fast Facts for Patients and Supporters: Pyruvate Kinase Deficiency”, which is freely available online. This article lists how complications can be managed when treating pyruvate kinase deficiency.

Treating Excess Bilirubin in Newborns

Most newborn babies with PK deficiency develop jaundice because of the breakdown of red blood cells and the inability of their immature livers to conjugate bilirubin.

An increase in unconjugated bilirubin in a newborn can lead to significant neurological complications, including a problem called kernicterus (damage to the brain and central nervous system). Newborns with severe jaundice therefore need treatment to decrease the bilirubin levels.

Phototherapy (light therapy) exposes your baby’s skin to as much light as possible. It lowers bilirubin levels through a process called photo-oxidation. Oxygen is added to the bilirubin, making it easier for the baby’s liver to process the bilirubin.

There are two main types of phototherapy:

  • conventional – the baby lies under a halogen or fluorescent lamp
  • fiber-optic – the baby lies on a fiber-optic blanket so that light shines on the baby’s back.

Continuous multiple phototherapy may also be offered, using more than one light and a fiber-optic blanket at the same time.

Phototherapy: Light box and fiber-optic blanket

Bilirubin levels will be tested every 4–6 hours after phototherapy has started, then every 6–12 hours once the levels start to decrease.

The treatment will be stopped when the bilirubin reaches a safe level, usually within 48 hours. Intravenous fluids and/or increased feeding may also help with the clearance of the bilirubin.

Exchange transfusion. When phototherapy does not adequately decrease the bilirubin level, a procedure called exchange transfusion is recommended to avoid the risk of kernicterus.

Small amounts of your baby’s blood are removed and replaced with blood from a donor (i.e. a blood transfusion) through an intravenous catheter that is placed in their umbilical cord, arms or legs. A protein called albumin may be transfused as well to help decrease the bilirubin level.

The process can take several hours, with regular checks on bilirubin levels to make sure they are falling. If bilirubin levels remain high, the procedure may need to be repeated.

In addition to reducing the bilirubin level, this procedure raises the hemoglobin level and treats anemia.

Treatment of Iron Overload

If you receive regular blood transfusions for your PK deficiency, you will need treatment to remove excess iron from your body. If you have iron overload in the absence of transfusions, you may find you need iron removal treatment for a period of time and are then able to stop the treatment, maybe restarting it again years later based on iron monitoring results.

Depending on the degree of iron burden, drugs that remove iron from the body (chelation therapy) and/or therapeutic withdrawal of blood to remove iron from the body (phlebotomy) may be prescribed. Whether phlebotomy is an effective treatment for iron removal in PK deficiency and how it compares to iron chelation therapy have not been studied. Therefore, most patients with PK deficiency are treated with chelation for iron removal, rather than with phlebotomy.

Chelation therapy. Chelation agents bind with the iron to form substances that can be excreted from the body easily. The table overleaf provides a list of chelation medicines. Even if you receive infrequent transfusions or you’ve never received a transfusion, you may still need iron chelation treatment.

Terminology Tip: Chelation comes from the Greek word “chele”, which means “claw”, in the sense of a pincer-like claw of a lobster or crab, and suggests gripping or holding something firmly. Chelation agents bind with metals such as iron to form substances that can be easily excreted from the body.

Phlebotomy (blood draws). Phlebotomy is an alternative treatment to remove excess iron if you do not receive transfusions. A small volume of blood is removed periodically (for example, every 4 weeks) intravenously to remove the iron. The volume of blood removed will depend on your size and your baseline hemoglobin level, but may be 50–300 mL. A sample of blood will be taken before the procedure to measure your hemoglobin. Phlebotomy is safe if you have not had a transfusion and your hemoglobin is high enough to tolerate blood removal.

Gallbladder Removal (Cholecystectomy)

Gallstones can be associated with nausea or abdominal pain after eating and/or complications if they become stuck in the biliary tract.

You will have an ongoing risk of developing gallstones because of continued hemolysis. Given this, surgical removal of the gallbladder is recommended in PK deficiency if you have gallstones.

Gallbladder removal (cholecystectomy) and spleen removal (splenectomy)

If you are considering a splenectomy, you should have an ultrasound before the procedure to see if you have gallstones. Even if you do not, you could consider having a cholecystectomy at the same time as your splenectomy, given the likelihood that you will develop gallstones in future.

Vitamin Supplements

Folic acid is needed to make red blood cells. If you have an elevated reticulocyte count, you will need to ensure you have sufficient folic acid. Depending on the amount of folic acid in your diet, you may need to take folic acid supplements.

Vitamin D/calcium. Given the risk for low bone density in people with PK deficiency, you may find it beneficial to take vitamin D and calcium supplements for bone health. This will depend on how much vitamin D and calcium you have in your diet.

Exercise can also help to strengthen your bones. If your bone density is very low, your doctor may recommend other treatments.

A note of caution: People with PK deficiency tend to overload with iron, so you must avoid taking additional iron supplements in the form of multivitamins or prenatal vitamins.


Please check out the other posts of our series here:


Information based on Fast Facts for Patients and Supporters: Pyruvate Kinase Deficiency  (Karger, 2019).

Treating Pyruvate Kinase Deficiency: Managing the Anemia

This is the fourth part of our series about the condition based on our patient booklet “Fast Facts for Patients and Supporters: Pyruvate Kinase Deficiency”, which is freely available online. This article depicts how the anemia can be managed when treating pyruvate kinase deficiency.

At present, there are no approved drugs that directly treat PK deficiency, but it is possible to manage your symptoms. The type of supportive treatment you are given will depend on how the disease affects you.


It is not your level of hemoglobin, but how well you tolerate the hemolytic anemia caused by PK deficiency that will determine whether you need to have blood transfusions. In PK deficiency, the increase in 2,3-DPG in red blood cells means that more oxygen is released to the body. As a result, you may be able to tolerate moderate anemia with few symptoms.

Blood transfusion for the treatment of pyruvate kinase deficiency

Transfusions in Newborns and Young Children

The goal is to avoid transfusions if possible, but during the first years of life, red blood cell transfusions may be required to manage severe anemia. The transfusions may be needed to support normal growth and development and/or to avoid symptoms of anemia, including fatigue and poor feeding. For some young children, decreasing the frequency of transfusions to permit a lower hemoglobin level will allow the doctor to assess the child’s reticulocyte response and the true baseline hemoglobin level.

Transfusions in Older Children and Adults

There is no standard criteria or schedule when it comes to deciding whether to give an older child or adult a transfusion. The degree of anemia and the associated symptoms can vary between individuals.

You may never need a transfusion or may only have a transfusion in the setting of a hemolytic episode or aplastic crisis. Alternatively, you may require regular transfusion therapy and may consider opting for a splenectomy.


If you receive frequent blood transfusions and/or have significant symptoms related to anemia, you may benefit from having surgery to remove your spleen.

Old or damaged red blood cells will continue to be removed in the liver, and so splenectomy is only partially effective in improving the hemolytic anemia.

Both open surgery and laparoscopic (minimally invasive or keyhole) surgery are performed under general anesthesia. The type of surgery may depend on the size of your spleen; your doctor will discuss this with you.

Most patients will spend at least a few nights in hospital after surgery.

Open splenectomy and laparoscopic splenectomy incision sites

Laparoscopic surgery usually results in less pain, a faster recovery and a shorter hospital stay. Several small openings are made in the abdomen, and the surgeon will use a slender tool called a laparoscope, with a light and camera on the end, to look into the abdominal area. Other medical instruments will be passed through the other openings to disconnect the spleen from the body’s blood supply before removing it. The surgical openings are closed using stitches or sutures.

Open surgery. A larger cut is made, often underneath the rib cage, to remove the spleen. The method used will depend on your overall health and the size of your spleen.

Partial splenectomy (only part of the spleen is removed) has not been reported to be beneficial in patients with PK deficiency.

Benefits and risks. Your hematologist can help you and your family weigh the potential benefits and risks to decide if splenectomy is the right option for you.

Risk of infection. The spleen is an important organ that helps your body to fight infections. Splenectomy raises the risk of infection from certain bacteria, such as pneumococcus, meningococcus and haemophilus. These infections can be very serious, even life-threatening, and the risk will remain for your lifetime.

Although the absolute risk of serious infection after splenectomy is very low, it is much higher in people who have had a splenectomy than in the healthy population. For this reason, surgery in children should be delayed when possible until they are at least 5 years old.

In determining the timing of splenectomy, the risk of a serious infection must be balanced against the risks of red blood cell transfusions and iron loading. After splenectomy, other infections for which you will be at higher risk include malaria (from mosquitos) and babesiosis (from ticks) in endemic areas.

How can I protect myself from getting an infection? After a splenectomy, you are likely to be given antibiotics to protect against the possibility of a serious infection. Some doctors recommend twice daily antibiotics for a period of time after splenectomy; others advise continuing antibiotics for life. You must seek urgent medical attention for all fevers, to be assessed and treated with broad-spectrum antibiotics (see box below).

It is very important that you have the recommended vaccines before splenectomy and then stay up to date with your immunizations (vaccines) after surgery. Ask your hematologist and/or general physician whether your vaccines are up to date.

IMPORTANT: After splenectomy, you are at risk of serious infection. See a doctor immediately if you develop a fever over 38.5°C (101.5°F). You must seek medical attention even if you have other infectious symptoms, such as a cough or congestion, or you have multiple family members with similar symptoms. A sample of your blood will be sent for laboratory tests (blood culture and complete blood counts) and you will be given intravenous or intramuscular broad-spectrum antibiotics.

Potential benefits and risks of splenectomy

Risk of blood clots. As a filtering organ, your spleen plays a role in protecting you from blood clots (thrombosis). Blood clots can form in the large veins of the arms or legs (deep vein thrombosis), the blood vessels around the liver (portal vein thrombosis) or other concerning locations. Clots in the arteries can also occasionally develop.

The risk of developing a blood clot after splenectomy for PK deficiency is approximately 10%. Some individuals take aspirin or other medications after splenectomy to decrease this risk. Consider speaking to your doctor about this.

Stem Cell Transplantation

A bone marrow (stem cell) transplant can cure PK deficiency. This has been carried out successfully in studies in animals with PK deficiency, but the procedure is associated with significant risks, including the development of new chronic medical issues and the risk of dying from complications related to the transplant.

In total, 16 individuals with PK deficiency have undergone stem cell transplantation in Europe and Asia, with a range of conditioning (preparation) regimens and management strategies. These patients had a high rate of graft-versus-host disease (i.e. the donor cells attacked the host’s own cells), a chronic complication that can cause issues related to the skin, gastrointestinal tract and other organs.

Most doctors think that the risk–benefit ratio is currently weighted in favor of splenectomy over stem cell transplantation. However, over time, the risks associated with transplantation may decrease and this may be an option for more patients.


Please check out the other posts of our series here:


Information based on Fast Facts for Patients and Supporters: Pyruvate Kinase Deficiency  (Karger, 2019).

How Will Pyruvate Kinase Deficiency Affect Me or My Child?

This is the third part of our series about the condition based on our patient booklet “Fast Facts for Patients and Supporters: Pyruvate Kinase Deficiency”, which is freely available online. This article shows how pyruvate kinase deficiency will affect you or your child.

The symptoms and complications that you or your child experience may be very different from someone else with PK deficiency, as they vary widely between people. The hemolytic anemia caused by PK deficiency can vary from mild to severe, with a typical hemoglobin level of 6–12 g/dL. Normal hemoglobin levels in healthy individuals vary by age and sex, ranging from 10.5–16 g/dL.

Signs and symptoms of pyruvate kinase deficiency

Can You Predict Symptom Severity?

Patients and doctors often wonder if there are any laboratory tests or findings early in childhood that might predict the likelihood of certain symptoms, or indicate whether transfusions or a splenectomy might be needed later in life. Researchers are currently looking at these relationships.

To date, studies have found no relationship between the level of pyruvate kinase enzyme activity and the degree of hemolysis. One reason for this is that the most enzyme-deficient red blood cells break down before pyruvate kinase enzyme activity can be measured (i.e. the results of your enzyme activity test come from your healthiest or most PK-sufficient red blood cells).

People with more disruptive PKLR gene mutations are more likely to have complications.

People with lower hemoglobin levels have a higher likelihood of complications. However, anyone with PK deficiency can develop the complications described below.

Jaundice/Scleral Icterus

You may develop yellowing of the whites of your eyes (scleral icterus) and/or yellowing of your skin (facial jaundice) as a result of your PK deficiency. These signs may be apparent all the time or just in times of illness, dehydration or stress.

Although removal of the spleen (splenectomy) improves anemia for most people with PK deficiency, it does not resolve the issue of jaundice/scleral icterus, as the hemolytic process continues after splenectomy.

Why Do Some People Have More Jaundice than Others?

The degree of jaundice or scleral icterus is linked to your total unconjugated bilirubin level. This is determined both by the degree of hemolysis and by your ability to metabolize bilirubin, which is genetically determined.

People with Gilbert syndrome have an inherited abnormality (two copies of a non-working gene) that reduces the production of an enzyme involved in the processing of bilirubin in the liver (i.e. bilirubin is metabolized more slowly). Gilbert syndrome is common (affecting 5–15% of the population), so it is possible for someone to inherit both PK deficiency and Gilbert syndrome. People with Gilbert syndrome often have worsening of their everyday jaundice around the time of puberty.


Your spleen may become enlarged (splenomegaly) as a result of more red blood cells being broken down in the organ. The spleen can further increase in size during hemolytic episodes and/or if you have a viral infection. The spleen is typically enlarged in PK deficiency, but if you have a normal-sized spleen that does not exclude the diagnosis of PK deficiency or the likelihood of increased breakdown of red blood cells in the spleen. If you have severe anemia, removal of the spleen may be beneficial even if your spleen is a normal size.

An enlarged spleen does not typically cause pain. However, if your spleen is significantly enlarged, it may compress the stomach, making you feel full quickly when you eat. An enlarged spleen can also act as a sponge, causing transfused red blood cells and other blood cells (platelets and white blood cells) to get stuck, resulting in lower blood counts.

An enlarged spleen, when it can be felt below the rib cage, can be more at risk of injury, so your doctor is likely to recommend avoiding contact sports.

Hemolytic Episodes

Hemolytic episodes or crises develop in response to stressors or triggers of hemolysis. These are most often infections and, therefore, are more frequent in childhood. Pregnancy can also be a common hemolytic trigger.

During these episodes, you may find your everyday symptoms, such as fatigue, paleness, scleral icterus, jaundice and/or dark urine, get worse. Your spleen may also increase in size. Blood tests will reveal:

  • decreased hemoglobin/hematocrit
  • increased reticulocyte count
  • increased bilirubin
  • increased lactate dehydrogenase (a marker of red blood cell breakdown in the blood vessels).

Aplastic Crisis

An aplastic crisis is caused by parvovirus B19 infection (also known as Fifths disease). This common viral infection typically causes a high fever and facial rash.

In people with PK deficiency, parvovirus infection decreases hemoglobin and reduces or stops reticulocyte production in the bone marrow.

This infection can only occur once in your life and self-resolves like other viral infections. Testing for antibodies to parvovirus can diagnose a current or recent infection or a history of previous infection (i.e. immunity to the virus).

In PK deficiency, aplastic crises often require blood transfusions.


Gallstones are a frequent complication in children and adolescents with PK deficiency due to the increased release of unconjugated bilirubin.

Unlike dietary-related gallstones in middle-aged adults, you can develop pigmented (bilirubin) gallstones at any age. The risk of gallstones is life-long due to ongoing hemolysis and will continue even if you have your spleen removed.

Some people with gallstones have no symptoms, or you may have nausea or abdominal pain after eating. Gallstones can also get stuck in the organs and ducts that create and store bile (the biliary system) and can cause significant worsening of baseline jaundice.

Gallstones can also be associated with other complications, such as infection of the gallbladder (cholangitis) or inflammation of the pancreas (pancreatitis). If you are diagnosed with these problems your doctor is likely to recommend surgical removal of your gallbladder (cholecystectomy).

Iron Overload

Transfusion-related iron overload. Red blood cells contain iron, so every time you receive a blood transfusion you are putting more iron into your body. The body does not have a mechanism to remove the excess iron, so it can build up and damage your organs. The iron is most commonly deposited in the liver, but it can also be deposited in the heart and hormone-producing organs (endocrine organs).

Health problems associated with iron loading

Iron loading is not associated with symptoms until a significant amount of iron is deposited, so if you receive regular transfusions it is important you are closely monitored for iron loading and remain on treatment (chelation) to remove iron.

Non-transfusion-related iron overload. Even if you do not receive transfusions as part of your treatment, you may still be at risk for iron loading. Regular iron monitoring is important. Transfusion-independent iron loading is common in people with PK deficiency; it can occur at any age and in patients with any hemoglobin level.

Although transfusion-independent iron loading is not well studied in PK deficiency, it is thought that the body responds to the anemia by absorbing more iron, even though there is no iron deficiency. It is not clear why some people with PK deficiency absorb more iron than others. Care should be taken to avoid iron supplements (including multivitamins with iron) and excessive ingestion of foods high in iron (e.g. liver and red meat).

Extramedullary Hematopoiesis

When your body has to make an excessive number of red blood cells every day, blood cell production (hematopoiesis) can begin to occur outside of the bone marrow in organs such as the liver or spleen, or in other locations, such as around the spine or in the chest. This finding is usually diagnosed by a radiology scan and/or a tissue biopsy.

Extramedullary hematopoiesis is not a frequent complication in PK deficiency but is also not uncommon.

Low Bone Density

Low bone density is another potential complication of PK deficiency. The reason for this is not clear but it may be associated with the increased rate of red blood cell production in the bone marrow. You may find it beneficial to pay close attention to your vitamin D and calcium intake.

Infrequent Complications

Pulmonary hypertension (high blood pressure in the arteries in the lungs and the right side of the heart) is an infrequent complication of PK deficiency. It can be detected on routine screening tests, or may cause symptoms including shortness of breath and fatigue. Leg ulcers related to PK deficiency occur in some people, but the cause is not well understood; leg ulcers occur in other types of hemolytic anemia as well.

Other, less common, signs and symptoms may occur so be sure to ask your doctor about any symptoms or problems that you have.

Psychological Problems

The effects of chronic anemia and/or the treatments associated with PK deficiency can affect your psychological wellbeing. If you are feeling sad, or having difficulty sleeping or other mood-related symptoms, please consult your doctor.


Please check out the other posts of our series here:


Information based on Fast Facts for Patients and Supporters: Pyruvate Kinase Deficiency  (Karger, 2019).

What Causes Pyruvate Kinase Deficiency and How Is It Diagnosed?

This is the second part of our series about the condition based on our patient booklet “Fast Facts for Patients and Supporters: Pyruvate Kinase Deficiency”, which is freely available online. This article details what causes pyruvate kinase deficiency and how it is diagnosed.

Causes of PKD

The production of pyruvate kinase is controlled by a gene called PKLR, which is found on the long (q) arm of chromosome 1 at position 22 (1q22).

Causes of pyruvate kinase deficiency

How Is Pyruvate Kinase Deficiency Inherited?

Everyone inherits two copies of the PKLR gene, one from each of their parents. To inherit PK deficiency you have to receive two non-working copies of the PKLR gene. This is called an autosomal recessive genetic disease.

People who inherit only one non-working copy of the PKLR gene (from one parent) do not have symptoms of hemolysis or anemia but are known as carriers of PK deficiency.


Inheritance of pyruvate kinase deficiency


The PKLR gene provides instructions to produce two types of pyruvate kinase, one found in red blood cells and one found in liver cells. The liver is able to compensate for non-working PKLR genes whereas the red blood cells are not.

PKLR Gene Mutations

Over 300 different mutations of the PKLR gene have been identified. Most people inherit a different PKLR mutation from each of their parents.

Many PKLR gene mutations are very rare, occurring only once; approximately 25% of people diagnosed with PK deficiency have a newly described genetic mutation.

If I Have Pyruvate Kinase Deficiency, Will My Children Have It too?

If your partner does not have or does not carry PK deficiency, your child will not have PK deficiency but will carry one non-working PKLR gene (inherited from you). So your child will be a carrier of the disease, but will not develop the disease.


Which children will have pyruvate kinase deficiency?


PK deficiency is uncommon, so it is very unlikely that your partner will carry a non-working PKLR gene. However, if you have a child with someone who is from an area where PK deficiency is more common (for example, in the Amish community), then your partner could consider a genetic screening test to better understand the likelihood of having a child with PK deficiency.

Who Is Most at Risk of Inheriting Pyruvate Kinase Deficiency?

PK deficiency is equally common in men and women.

People with PK deficiency are from all over the world. Although most mutations are rare, some specific amino acid changes are found more commonly in particular populations such as the Amish community, the Romany population and in some Mediterranean countries. The frequency of PK deficiency is highest in the Amish community in Pennsylvania, USA, because of the founder effect. The founder effect is when a group of people has common ancestors and therefore less genetic variation. In the Amish community, PK deficiency can be traced to a single immigrant couple.

It is thought that carriers of PK deficiency may be more resistant to malaria infection and, therefore, carriers are more likely to be found in regions where malaria is common.

In studies looking at the most common PKLR mutations in white populations, PK deficiency has been estimated to affect 1 in 20 000 people. However, in clinical practice, PK deficiency appears to be even more rare than this estimate suggests. Doctors and researchers have been trying to understand why this is the case. It may be that PK deficiency is under-diagnosed (particularly in people with mild findings). In addition, many patients may be misdiagnosed with an alternative type of hemolytic anemia.

Diagnosis of PKD

PK deficiency is present from birth. However, some individuals are not diagnosed until late childhood or adulthood.

Signs and Symptoms

As discussed, in PK deficiency red blood cells break apart more easily (hemolysis), causing hemolytic anemia. As a result, you may look pale, feel tired and/or lack energy for exercise.

You may also have yellowing of the whites of your eyes (scleral icterus), yellowing of your skin (facial jaundice) and/or dark urine.

Some people with PK deficiency have a lot of symptoms; others have none, with PK deficiency being diagnosed on routine laboratory tests.

Blood Tests for Hemolytic Anemia

First, your doctor will take a blood sample to send for laboratory testing to see if you have hemolytic anemia.

Blood test findings of hemolytic anemia

Tests for Pyruvate Kinase Deficiency

Enzyme Activity Test

For the specific diagnosis of PK deficiency, you will need a further blood test to measure pyruvate kinase enzyme activity. Your doctor will take a blood sample to send to a specialized laboratory to ensure the accuracy of the test.

Most people with PK deficiency have 5–25% of the normal enzyme activity. Occasionally, even though you have PK deficiency, your test may show that you have a normal level of PK enzyme activity. If this is the case, your PK enzyme activity will be compared to that of other red blood cell enzymes (such as hexokinase or glucose-6-phosphate dehydrogenase), which will be higher in comparison.

Genetic Testing

Analysis of the PKLR gene is also used to screen for, or confirm, PK deficiency. Genetic testing is useful:

  • if you receive frequent blood transfusions, as the transfused blood will make the enzyme activity test difficult to interpret
  • to confirm the diagnosis if you have low or low-normal pyruvate kinase enzyme activity and a high suspicion for PK deficiency
  • to test your parents, to confirm you inherited one non-working PKLR gene from each parent
  • before the birth of a child, if you already have a child with PK deficiency.


Role of hematocrit and genetic testing


Please check out the first post of our series here:


Information based on Fast Facts for Patients and Supporters: Pyruvate Kinase Deficiency  (Karger, 2019).

What Is Pyruvate Kinase Deficiency?

This is the first part of our series about the condition based on our patient booklet “Fast Facts for Patients and Supporters: Pyruvate Kinase Deficiency”, which is freely available online. This article explains what pyruvate kinase deficiency is.

Pyruvate kinase (PK) deficiency is a rare genetic disease that affects red blood cells. Everyone who has PK deficiency is born with it, even if they are diagnosed later in life. To understand how PK deficiency affects you, you need an understanding of the role of healthy red blood cells and pyruvate kinase, and what happens to red blood cells in PK deficiency.

The Role of Red Blood Cells

Role of red blood cells

Red blood cells have a flexible shape called a biconcave disc, which looks like a flattened sphere. This flexible shape allows the cells to squeeze through narrow blood vessels (capillaries) as they deliver oxygen to the body. Healthy red blood cells can squeeze through the smallest capillaries.

The Role of Pyruvate Kinase

Red blood cells make energy by converting glucose (a sugar) into pyruvate (an important molecule in metabolism) and a high-energy molecule called adenosine triphosphate (ATP) in a multistep process called glycolysis.


Role of pyruvate kinase


Pyruvate kinase is an enzyme that makes the last step in this process happen. It converts a protein called phosphoenolpyruvate into pyruvate and ATP. Less pyruvate kinase results in less ATP, so red blood cells have less energy.


Role of pyruvate kinase deficiency


The energy generated by glycolysis helps healthy red blood cells to keep their normal shape, stay flexible and protect themselves from injury (oxidative damage). In people with a normal amount of pyruvate kinase, red blood cells can generate enough ATP to last an average of 120 days.

The Breakdown of Red Blood Cells

The breakdown of red blood cells is called hemolysis. Normally, after 120 days, red blood cells break down and are removed from the circulation by the spleen.

Breakdown of red blood cells

Red blood cells that do not have enough pyruvate kinase cannot make enough energy to hold their shape, and they break apart more easily than healthy red blood cells. Instead of lasting 120 days, PK-deficient red blood cells only last a few days to weeks.

The breakdown of red blood cells (hemolysis) causes hemolytic anemia (a low red blood cell count or low hemoglobin level) and jaundice (yellowing of the skin), which is caused by bilirubin, a substance released from red blood cells as they break down.

Replacement of Red Blood Cells

In healthy individuals, the bone marrow makes enough young red blood cells (reticulocytes) to balance the old or damaged red blood cells that are removed from the circulation by the spleen. Reticulocytes usually make up 1–2% of all the circulating red blood cells. The bone marrow also makes more reticulocytes when PK-deficient red blood cells break down, but overall more red blood cells break apart than are made.

Reticulocytes require more energy in the form of ATP than older red blood cells but, unlike mature red blood cells, they can make energy through pathways other than glycolysis. Reticulocytes are therefore less reliant on normal levels of pyruvate kinase than mature red blood cells. However, these alternative pathways rely on the presence of oxygen. The capillaries in the spleen are low in oxygen, so when reticulocytes flow through the spleen the alternative energy pathways no longer function, and the reticulocytes become reliant on glycolysis for energy.

In this environment, PK-deficient reticulocytes cannot make enough ATP and become dehydrated. They are then quickly destroyed in the spleen and/or liver. If people with PK deficiency have their spleen removed surgically (splenectomy), the reticulocytes have enough oxygen to make energy through the alternative energy pathways and can last longer. This is why the reticulocyte count increases after splenectomy in patients with PK deficiency.

What Else Happens to Glycolysis in Pyruvate Kinase Deficiency?

Although the main problem in PK deficiency is the inadequate amount of ATP made at the end of glycolysis, without enough pyruvate kinase for glycolysis to work efficiently, products made earlier in the pathway build up.


Further effects on glucolysis in pyruvate kinase deficiency


2,3-DPG controls the release of oxygen from red blood cells to different parts of the body. As 2,3-DPG rises, more oxygen is released from hemoglobin into the tissues.

Normally, the amount of 2,3-DPG is tightly regulated so that the body receives the right amount of oxygen. In PK deficiency, the levels of 2,3-DPG rise and more oxygen is released from hemoglobin into the tissues. Because of this, people with PK deficiency may tolerate a lower hemoglobin level than people with other types of anemia in which 2,3-DPG is not elevated.


Information based on Fast Facts for Patients and Supporters: Pyruvate Kinase Deficiency  (Karger, 2019).

Long-Chain Fatty Acid Oxidation Disorders: Genetic Testing and Genetic Counseling

This is the third part of our mini-series about the condition based on our patient booklet “Fast Facts for Patients: Long-Chain Fatty Acid Oxidation Disorders”. This article explains what a gene is and details genetic testing as well as counseling.

What Is a Gene?

A gene is a section of DNA that tells the body how to make a specific protein – in the case of long-chain fatty acid oxidation disorders (LC-FAODs), the protein is an enzyme.

Genetic Testing

LC-FAODs are inherited genetic disorders. They happen because the gene that carries the instructions for making the specific enzyme has a misprint or change. This means that not enough of the enzyme is made or it is made incorrectly and does not work properly.

Your doctor may suggest genetic testing to identify the genetic changes that are present. The test is carried out on a blood sample.

There are many different genetic changes that can lead to LC-FAODs. The name of the gene that is altered or changed in each of the LC-FAODs is shown in the table below.

Name of the altered or changed gene in each of the long-chain fatty acid oxidation disorders

We have two copies of most of our genes – one copy from each of our biological parents. A person will have an LC-FAOD only if both copies of the gene passed on from their parents have the genetic change. If only one parent passes on a copy with a change, the other copy of the gene may be able to make a working enzyme. If this happens, the person will not have an LC-FAOD but is said to be a carrier. A carrier can pass the genetic change on to their child. The illustration shows the different combinations – the pattern is called recessive inheritance.

How Many People Are Affected?

LC-FAODs are very rare. Overall, it is estimated that 1 newborn is identified with a fatty acid oxidation disorder in every 9,300 babies. The conditions tend to be more common in European countries and populations with European ancestry. In contrast, they are much less common in Asian countries. Some disorders are particularly common in specific groups: for example, CPT1 deficiency seems to occur more often in Inuit people living in northern Canada. VLCAD deficiency is the most common LC-FAOD. It is identified in 1 in 30,000 to 1 in 100,000 newborns, depending on the population.

Transmission of the genetic change: carriers, affected and those unaffected

Genetic Counseling

Genetic counseling involves discussing the likelihood that the genetic change that you carry would be passed on to your children.

If you are a parent of a child with an LC-FAOD, you most likely were not aware that you carried the genetic change. A health professional or geneticist will talk to you about the likelihood of other or future children being affected.

You and your partner may also be offered carrier testing. Blood samples will be sent to the laboratory, and the gene will be checked to see if it has the same genetic change as your child has.

Prenatal Diagnosis

Prenatal diagnosis is a way of checking during pregnancy whether a baby carries two copies of the genetic change. Your doctor or geneticist will talk to you about what is involved and the information that the test will provide.

In vitro fertilization so that the genetic make-up of the embryo can be checked before implantation may also be a possibility. Again, this is something to discuss with your healthcare team.


If you are a woman with an LC-FAOD and you become pregnant, you may require closer monitoring during the pregnancy. There may be changes in your dietary recommendations or supplements.

You should notify your metabolic care team if you are planning a pregnancy and as soon as you know that you are pregnant.


Please check out the other posts of our series here:


Information based on Fast Facts for Patients: Long-Chain Fatty Acid Oxidation Disorders (Karger, 2021).

Long-Chain Fatty Acid Oxidation Disorders: Diagnosis, Managing and Monitoring

This is the second part of our mini-series about the condition based on our patient booklet “Fast Facts for Patients: Long-Chain Fatty Acid Oxidation Disorders”. This article addresses diagnosis of, living with and monitoring of long-chain fatty acid oxidation disorders (LC-FAOD). Furthermore, you find information on what you can do to help your child when affected by LC-FAOD.


“Newborn screening” describes the health tests that take place during the first few days of a newborn baby’s life. Some countries include tests for LC-FAODs in newborn screening, but others do not.

If newborn screening was not carried out or the LC-FAOD was not identified at that time, it may be diagnosed when symptoms appear. This may be in infancy or later in life.

Blood and Urine Tests

Blood and urine samples are tested in the laboratory to see if they have unusually high levels of partly digested fatty acids and other chemicals. Although some LC-FAODs have a specific pattern of results, further tests may be needed.

Urine sample

Testing Enzyme Activity

Sometimes doctors need to test whether a particular enzyme is working. A small sample of skin is taken in a procedure called a skin biopsy.

In the laboratory, cells called fibroblasts are taken from the skin sample and tested to see whether the enzyme is working normally.

Cells called fibroblasts are taken from a skin sample


Symptoms can range from mild to severe or life-threatening. Sometimes the symptoms are triggered by intense exercise or fasting. They can also happen following a viral infection or after surgery.

Most patients have only some of the symptoms shown below, depending on the specific diagnosis.

Symptoms of long-chain fatty acid oxidation disorders

Living with a Long-Chain Fatty Acid Oxidation Disorder


LC-FAODs are managed with a special individualized diet (nutrition plan) – your healthcare team will talk to you about this.

Depending on the severity of the condition, your baby may need a special formula that is very low in long-chain fats. These formulas contain all the vitamins and minerals needed to allow normal growth. They also contain medium-chain fats, which a person with an LC-FAOD can break down into energy.

As your child starts to take solid food, your dietitian will give you advice on suitable foods to offer and introduce you to medium chain fats that can be substituted for normal fats.

Fasting Times and Regular Meals

Every child will have a different fasting time. This is the length of time that the body can provide energy safely without having to use fat stores. The way this is tested will depend on where you live.

Your hospital or metabolic team will give you advice on a safe fasting time for your child. Some children need overnight feeding (sometimes using a tube) if they have very short fasting times.

It is also important to avoid long periods without food – again, your healthcare team will give you specific information and advice.

Exercise and Sport

Exercising makes extra demands on the body’s energy reserves. Your healthcare team will advise on how to make adjustments for this.

Illness and the Emergency/Sick Day Plan

Illness (high temperature, vomiting, diarrhea) disrupts the body’s metabolism and the body needs more energy. A person with an LC-FAOD will need to use their emergency or sick day plan. This involves taking a high-sugar drink that will have been prescribed for you.

Metabolic Crisis

A metabolic crisis happens in response to a trigger, such as illness with high fever or a long interval between meals. During a metabolic crisis, the person has little energy and becomes ill as the harmful semi-digested fatty acids build up in the body. The advice that your healthcare team gives you about diet, mealtimes and illness will help avoid metabolic crisis.


It is very important to have the recommended immunizations, to avoid infections, which may cause a high temperature.


Keeping a check on your child’s height and weight will be important as they grow. As well as checking that growth is normal, the information can also be used to make adjustments to the advice on diet, fasting, illness and exercise.

Monitoring your child’s height and weight will be important as they grow

If you are an adult, monitoring weight is important to make sure that your dietary regimen is providing appropriate calories. Regular blood tests will be used to check your metabolic health or that of your child.

Your child will have the usual regular monitoring that all children have to check they are meeting their developmental targets (milestones), such as smiling, crawling, walking and talking. In this way, your healthcare team will be able to see whether your child’s learning, coordination or sensory development (seeing and hearing) is being affected by the LC-FAOD.

Monitoring of developmental targets

What Can I Do to Help My Child?

The best way to lead a healthy active life or to help your child do this is to follow the specific advice of your healthcare team. Some general tips are:

  • have plenty of in-date emergency drink/food supplement at home and plan ahead.
  • have medications that help reduce a high temperature at home.
  • buy and use a thermometer.
  • use the full amounts of prescribed or advised special food.
  • if your child will not take the emergency drink/food supplement or you are concerned, go to your hospital.
  • keep contact numbers for your healthcare team in an easy-to‑reach place (it is a good idea to have them written down as well as stored in your phone contacts).
  • keep your emergency protocol in a safe and accessible place and make copies for those who care for your child.
  • ring your metabolic team for advice or go to the hospital.
  • inform childcare providers, nurseries, schools and clubs about your child’s condition and what to do if your child appears unwell.

Here is a list of information you should share with care providers, schools and clubs:

  • A meal or eating schedule.
  • A list of supplements, formulas and/or medications.
  • A list that explains details of foods that you or your child can and cannot have, preferences and favorites.
  • A list that explains limitations regarding certain activities.
  • Warning signs/symptoms to watch out for and what to do if they occur.
  • Key phone numbers (family, doctors, nearby hospitals).
  • Letter from your LC-FAOD healthcare team to share with other medical providers.


Please check out the other posts of our series here:


Information based on Fast Facts for Patients: Long-Chain Fatty Acid Oxidation Disorders (Karger, 2021).

Cervical Health Awareness Month 2022

According to the World Health Organization (WHO), in 2020 an estimated 604,000 women were diagnosed with cervical cancer worldwide, and about 342,000 women died from the disease. To honor Cervical Health Awareness Month, which is held in January, we give a short update on diagnosis and prevention of cervical cancer.

Cervical Cancer Screening

Cervical cancer probably affects 8–10 women per 100,000 every year. In developed countries, approximately 60% of women who are newly diagnosed with cervical cancer have either never been screened or not been screened in the previous 5 years. In the UK, a woman is recommended to have their first screening at 25 years old and then have them every three years. The most common form of screening is a conventional Pap smear or smear test, in which a spatula is inserted into the cervix to take a sample of cells. It is important to note that the smear is a test to help prevent cancer, not to detect it.

Post-Cervical Cancer Screening

Cervical cancer is associated with the HPV (human papillomavirus) group of viruses. If the sample of cells collected in the smear test is found to contain certain types of HPV, then it is checked to see if there are any changes in these cells. If the cells are abnormal then a colposcopy is needed to take a closer look at the cervix and to take a biopsy from any lesions detected. The results of the colposcopy will determine the next steps and what type of treatment and/or surgery the person should have.

Risk Factors

There are risk factors that can affect the persistence and progression of HPV infections, which can lead to cancer in a woman’s cervix.

Risk factors include:

  • Diet: a lack of folic acid in the blood has been reported to enhance the effects of other risk factors, such as smoking.
  • Age: HPV is more commonly found in adolescents. However, due to the HPV vaccines (see below) research has predicted that this is likely to change to people who are middle-aged and older.
  • Smoking: causes a weakened immune system and can damage cells, making cancer more likely to develop.
  • Pregnancy and childbirth.
  • Oral contraceptives: for women who have taken ”the pill” for five years or more, there is an increased risk of developing cervical cancer. However, this risk appears to be small and often the benefits of taking the pill exceed the risks.
  • Multiple sexual partners: there is an increased chance of developing certain HPV types if someone has had more than three sexual partners. However, most people have had three or more sexual partners in their lifetime, so it is nothing to be ashamed or overly worried about.
  • A weakened immune system.

HPV Vaccines

The three licensed HPV vaccines are administered to adolescents in order to prevent infection and consequent disease from certain types of HPV. These give effective protection against cervical cancer developing from these HPV types. However, it is important to note that the vaccines do not replace the need for cervical screening and do not prevent cancer from developing from all HPV types.

More Information

If you want to know more about the smear test you can read the corresponding article here, or if you have any questions make an appointment to consult your doctor, gynecologist or local GP.

The information of this article is based on “Fast Facts: Gynecologic Oncology” by Shohreh Shahabi, Richard J. Smith and Giuseppe Del Priore. This publication for health care professionals looks at the use and benefits of regular screening, the risk factors that can increase chances of developing cervical cancer and the methods used to prevent and decrease these risks. The digital version of the book is freely available here.

What Are Long-Chain Fatty Acid Oxidation Disorders?

This is the first part of our mini-series about the condition based on our patient booklet “Fast Facts for Patients: Long-Chain Fatty Acid Oxidation Disorders”. This article explains what fats and fatty acids are, what they do, and what long-chain fatty acid oxidation disorders are.

First, the Facts

  • Long-chain fatty acid oxidation disorders (LC-FAODs) are rare, inherited conditions.
  • With an LC-FAOD, the body has trouble breaking down fat for energy, which can lead to symptoms such as low blood sugars, muscle pain/weakness, and heart problems.
  • LC-FAODs are diagnosed by newborn screening or symptoms later in life.
  • Management includes a specialized nutrition plan, and prevention of fasting, especially during illness.
  • A person with an LC-FAOD can live a full, active and healthy life with lifestyle changes and close coordination with, and support from, an expert healthcare team.

Fats and Fatty Acids

Fat as an Energy Source

Our bodies need energy to keep muscles, organs and normal processes working. The three types of food that provide energy are carbohydrates (in the form of sugars and starches), protein and fats. The body stores fat under the skin and around the organs so that it can be used to provide energy when needed.

Fatty Acids Are Building Blocks

Fats are made up of building blocks called fatty acids. Fatty acids are usually joined in groups of three (tri) to a glycerol backbone – this is called a triglyceride. Each fatty acid is made up of a chain of carbon atoms with hydrogen atoms attached.

Fatty acids are usually joined in groups of three (tri) to a glycerol backbone – this is called a triglyceride.

Fats enter the body from our diet. Fatty acids are released from triglycerides. They are either stored as fat or used as a source of energy in the body.

The number of carbon atoms varies between different fatty acids; for example:

  • Palmitic acid has 16 carbons and is found in palm oil.
  • Oleic acid has 18 carbons and is found in olive oil.
  • Arachidonic acid has 20 carbons and is found in meat and dairy products.

Fatty Acids for Energy

When the body needs to use fat as an energy source, it breaks down the triglyceride and releases fatty acids. These fatty acids then travel in the blood to the muscles and organs where they can be used for energy.

Introducing Beta Oxidation

Once the fatty acids are in the muscle or organ where they will be used for energy, they go through a complicated process called beta oxidation. This takes place in mitochondria, which are specialized areas in cells.

Fatty acids and beta oxidation.

The body takes energy from fatty acids.

What is an enzyme?

Long-Chain Fatty Acid Oxidation Disorders

Each fatty acid contains a chain of carbons. The length of this chain varies, with most fatty acids having between 4 and 24 carbons.

Short-chain, medium-chain and long-chain fatty acids.

Enzymes are needed to move long-chain fatty acids into the mitochondria and process them for energy. LC-FAODs happen when one of the enzymes involved in breaking down long-chain fatty acids for energy is not made or is not working properly.

As a result, the body is unable to use these fatty acids for energy in the usual way. This can lead to problems with energy supplies. Not being able to use energy from stored fat can cause harmful effects. Having partially digested fatty acids in the body may also cause problems.

LC-FAODs are named according to the enzyme that is affected. The most common types of LC-FAOD are:

  • Carnitine palmitoyltransferase 1 or CPT1 deficiency (sometimes written as CPT I)
  • Carnitine acylcarnitine translocase or CACT deficiency
  • Carnitine palmitoyltransferase 2 or CPT2 deficiency (sometimes written as CPT II)
  • Very-long-chain acyl-CoA dehydrogenase or VLCAD deficiency
  • Long-chain 3-hydroxy-acyl-CoA dehydrogenase or LCHAD deficiency
  • Trifunctional protein or TFP deficiency.

The affected enzymes are important for either:

  • the carnitine shuttle, which moves the long-chain fatty acids into the mitochondrion, or
  • the long-chain beta-oxidation spiral, which breaks down long-chain fatty acids into shorter and shorter pieces, two carbons at a time.

The two carbons removed in each round of beta oxidation form a molecule called acetyl-CoA, which then enters another energy producing cycle in the mitochondrion.

Long-chain fatty acid oxidation disorders are named according to the enzyme that is affected.


Please check out the other posts of our series here:


Information based on Fast Facts for Patients: Long-Chain Fatty Acid Oxidation Disorders (Karger, 2021).

Inflammatory Bowel Disease: Fertility and Pregnancy, Children, and the Elderly

This is the sixth and last part of our mini-series about the condition based on our patient booklet “Fast Facts for Patient and Their Supporters: Inflammatory Bowel Disease”.

Does IBD Affect Fertility or Pregnancy?


  • Female fertility is not significantly affected by IBD if the condition is well controlled.
  • Theoretically, oral contraceptive tablets may not be fully absorbed if Crohn’s disease affects the small intestine. If you are a woman with Crohn’s disease who wishes to avoid pregnancy, it is important that you discuss your contraceptive options with your doctor.
  • There is a risk of infertility in women who have had pelvic surgery, such as the creation of an ileoanal pouch after removal of the colon. Women should consider deferring pouch surgery until they have completed their family.
  • Male fertility can be reduced by sulfasalazine because it may reduce the sperm count. This is reversible.

How Does IBD Affect Pregnancy and Vice Versa?

  • Pregnancy does not adversely affect IBD and, if IBD is well controlled, it does not adversely affect the chances of a successful pregnancy.
  • If the IBD is uncontrolled at conception, there is an increased risk of spontaneous abortion, premature delivery and stillbirth.
  • Ideally, women should work with their doctor to try to achieve remission before conceiving. The wellbeing of the mother is the single most important influence on the outcome of pregnancy.
  • Pregnant women should talk to their doctor about the drugs they are taking and whether there are any risks to the unborn baby. However, the health benefits to the mother of safe drug control usually outweigh the theoretical risks to the unborn child.

IBD and pregnancy

What about Delivery?

Vaginal delivery is usually safe and preferred. However, if you have active Crohn’s disease in the anal region, Caesarean section should be considered. In all cases, it is wise to discuss the best strategy for delivery with both your gastroenterologist and obstetrician.

What Is the Risk of My Baby Getting IBD?

This is difficult to determine precisely in most cases. However, the lifetime risk for your baby is low and usually less than 5%. This means that there is a very high likelihood that your baby will never get IBD.

IBD in Children

Childhood IBD

IBD begins in childhood or adolescence in about a quarter of patients. Genetic rather than environmental influences are likely to be stronger when IBD occurs in childhood, particularly in preschoolers.

Unusual presentations are more common in children.

Characteristics of IBD in Children

  • More extensive disease than in adults
  • May result in short stature
  • Delays puberty
  • Causes inflammation outside the gut (e.g. skin rashes, mouth ulcers)


Children are not, of course, small adults; the treatment of IBD in childhood must consider that the patient is still growing and maturing, physically and emotionally.

Diagnostic Radiation

Diagnostic radiation, particularly from CT scans, should be limited because of an increased sensitivity to radiation in young people.


Early use of immunomodulatory drugs, including biological therapies such as anti-TNFa, can reduce the use of corticosteroids and offset the danger of stunted growth. Reluctance to use such drugs in young patients is often unfounded; there is no added risk with their use in children over that in adults.


Nutrition requires extra attention in children. Weight and height should be carefully monitored. Indeed, a liquid formula diet is often more important than drug therapy in children.

In some cases, it may be necessary to provide nutrition by a fine-bore tube passed through the nose and down the throat into the stomach.

IBD in the Elderly

IBD is common in older people, because most patients with IBD live a full life. In addition to those who grow old with their IBD, some patients develop IBD for the first time in later life.

IBD is often mild in older people, but coincidental disorders may get confused with IBD, delaying the diagnosis or complicating it.

The IBD is sometimes confused with other disorders.

Other Possibilities for Symptoms in Older People

  • Infectious colitis
  • Ischemic colitis (due to poor blood supply)
  • Diverticular disease
  • Drug-induced injury
  • Bowel cancer

Type of Disease

The inflammation in older people tends to occur in the lower parts (distal) of the gastrointestinal tract, with disease of the large bowel (colon) in patients with Crohn’s disease and more rectal involvement in those with ulcerative colitis.

Weight loss, bleeding and fever may be more prominent, and although it may seem strange, constipation often occurs.


It is important to spot the adverse effects of drugs quickly in the elderly. The use of multiple drugs for IBD and other disorders that people get as they age adds to the risk of drug toxicity and drug interactions.


Information based on Fast Facts for Patients and their Supporters: Inflammatory Bowel Disease (Karger, 2019).

Inflammatory Bowel Disease: Will You Need Surgery?

This is the fifth part of our mini-series about the condition based on our patient booklet “Fast Facts for Patient and Their Supporters: Inflammatory Bowel Disease”. Surgery can be life-saving and life changing by improving quality of life.

Surgery for Ulcerative Colitis

This involves removal of the entire colon and rectum (colectomy). Surgery often cures the disease, but only about 20% of patients need it.

Surgery May Be Performed for the Following Reasons

  • Emergency surgery when the disease becomes life threatening or cannot be controlled by drug therapy. These urgent or semi-urgent situations usually arise at first presentation or in the first couple of years.
  • Elective (non-urgent/planned) surgery in later years when the disease can no longer be adequately controlled with drugs.
  • Elective surgery following the detection of precancerous changes or early cancer at a colonoscopy check-up.

The Procedure

In many cases, the surgery can be performed by keyhole surgery (laparoscopy). The large bowel (rectum and colon) is completely removed, along with one of two surgical options.

Ileoanal pouch / Ileostomy

Pouchitis (inflammation of the pouch) occurs in up to half of all patients in the first decade after colectomy and ileoanal pouch construction. It is usually mild, with lower abdominal discomfort and increased frequency of bowel movements. Most of the time it can be managed with short courses of antibiotics and/or topical steroids or aminosalicylates. Occasionally it requires biological drug therapy. Rarely, a patient with resistant pouchitis may have to have the pouch surgically removed and a permanent ileostomy instead.

Surgery for Crohn’s Disease

For Crohn’s disease, surgery is usually performed to manage complications of the disease. In some instances, surgery is an appropriate early option, particularly for disease that is confined to a specific area of the bowel (localized disease) or to an area of narrowing (stricture) and obstruction in the last part of the small intestine (short-segment disease of the ileum).

The Procedures

The aim of surgery is to remove the smallest possible length of diseased bowel. Occasionally, it may be possible to open up (dilate) a stricture without removing any of the bowel by inflating a balloon from the inside using an endoscope.

Alternatively, it is possible to cut along the stricture and then sew it back up crossways (stricturoplasty).


Does the disease recur after surgery? Unlike ulcerative colitis, surgery does not eliminate Crohn’s disease. The disease returns in up to half of all patients after removal of diseased segments of bowel. In most instances, the disease comes back in the area where the bowel is stitched end-to-end (surgical anastomosis).

Because of the risks of recurrence after surgery, it is important to continue with maintenance drugs as prescribed by your doctor to minimize the risk of relapse.


Information based on Fast Facts for Patients and their Supporters: Inflammatory Bowel Disease (Karger, 2019).

How Is Metastatic Prostate Cancer Treated?

This is the fourth and last part of our mini-series about the condition based on our patient booklet “Fast Facts for Patient and Their Supporters: Metastatic Prostate Cancer”.

What Is Happening in Your Body before Treatment

To understand how metastatic prostate cancer is treated, it helps to understand what is happening in your body before treatment. Testosterone is essential for prostate cancer growth. The figure below shows how testosterone is produced.


Production of testosterone


The progression of disease can therefore be delayed for several years, sometimes more, by stopping testosterone from reaching prostate cancer cells. This is achieved by surgical or chemical castration. “Castration” can be a frightening term, so ask your doctor to explain it fully. The figure below shows how hormone therapy and surgery works in this respect.


How treatments for metastatic prostate cancer work



Surgical removal of both testicles, or the part of the testicles that make testosterone, is a simple day case procedure, often performed under local anesthesia. It involves a small incision in the middle of the scrotum, which is then closed with absorbable sutures. The relatively few complications of surgery such as bruising, blood clots and poor wound healing are easily managed. Over the next few hours your testosterone level will drop rapidly.

LHRH Agonists and Antagonists

These drugs are usually given as injections or implants into your arm, stomach area, thigh or bottom. Some LHRH agonists are available as a small pellet that is implanted under your skin under local anesthetic. The implant releases a constant dose of the drug for 1, 3 or 6 months.

LHRH agonists initially raise the testosterone level before it drops to castrate levels. This is called a testosterone “flare”. Because of this, a few patients experience a tumor “flare”, causing increased bone pain or worsening of urinary symptoms and an increased risk of spinal cord compression.

Treatment with anti-androgen tablets, starting a couple of weeks before your first LHRH agonist injection and continuing for a few weeks afterwards (4–6 weeks total) will help to avoid this.

LHRH antagonists can be administered without anti-androgens and are particularly beneficial if you have a high volume of spinal metastases and need rapid tumor control without a testosterone flare. Long-term use of LHRH antagonists can cause heart problems, but as these drugs are usually given intermittently this does not tend to be an issue.

Testosterone drops to the same levels as those in patients who have surgery.

Anti-Androgen Therapy

Although the testicles produce most of the testosterone in the body, a very small amount is also produced by the adrenal glands. Anti-androgens, taken daily as tablets, stop the testosterone that is produced by the adrenal glands from reaching prostate cancer cells.

These drugs can be taken:

  • on their own
  • before LHRH agonist treatment
  • together with LHRH agonist treatment (maximal androgen blockade)
  • after orchidectomy.

Intermittent Hormone Therapy

When PSA levels continue to rise despite continuous anti-androgen therapy, you may be offered intermittent hormone therapy instead. This involves stopping treatment when your PSA level is low and stable, and starting treatment again when your PSA starts to rise. At present, researchers do not know whether continuous or intermittent therapy is better, but intermittent therapy has the added benefit of decreasing the side effects of therapy.

Other Drugs


Normally, the adrenal glands produce hormones that are essential for the metabolic processes of your body. So, when you are taking antiandrogens, you will need to take other steroids to supplement the adrenal hormones that are no longer produced.


Information based on Metastatic Prostate Cancer (Karger, 2017).

Menopause: Frequently Asked Questions about Hormone Replacement Therapy

This is the ninth and last part of our series about the menopause based on our booklet “Fast Facts for Patients: Menopause”, which is freely available online. This article gives answers to frequently asked questions about hormone replacement therapy.

Q: I’m not having many menopausal symptoms, so do I need hormone replacement therapy (HRT)?

HRT is recommended for most women, because it:

  • protects against the development of possible peri-menopausal symptoms in the future
  • provides important long-term protection against osteoporosis
  • protects the vaginal tissues and bladder.

For women aged up to 60 who are in good health, the benefits of HRT far outweigh any risks.

Q: When should I start HRT?

You can start HRT at any time during the menopause transition. It will help with the symptoms and also provide the long-term benefits we have talked about.

HRT can also be started after the actual menopause and will help with any symptoms that continue. It will also protect the bones from osteoporosis.

However, HRT confers no cardiovascular disease (CVD) benefit if it is started outside the window of opportunity (within 5–6 years of the start of the menopause transition).

Q: How long should I take HRT for?

There is no specific age at which you should stop HRT – you can discuss this with your doctor, nurse or pharmacist.

Women are encouraged to take HRT until age 60, to get the full benefits in terms of protection against osteoporosis and CVD.

Women with premature ovarian insufficiency (when the ovaries stop working and no longer produce oestrogen) should continue HRT until at least age 52 (the average age of the menopause).

Q: I couldn’t have the contraceptive pill. Can I have HRT?

The levels of hormones in HRT are much lower than in the contraceptive pill. Women who couldn’t take the pill (because they have other health conditions or risk factors or side effects) can still take HRT.

Blood pressure increases with age. Oestrogen can raise blood pressure further in some women, but for most women blood pressure remains normal for their age.

Q: What if my symptoms do not improve?

Your doctor will start you on a low dose of HRT, aiming to relieve symptoms with the lowest dose that works for you. You may need to try a higher dose or a different type. Women in their 40s may need higher doses than older women.

Q: What are the side effects of HRT?

The main possible serious side effect of HRT is deep vein thrombosis (DVT) but the risk is low in otherwise healthy women.

Some women experience nausea, breast tenderness and headache when they start taking HRT but this usually passes with time.

Q: Will I put on weight?

HRT does not directly cause women to put on weight. However, hormones can increase appetite, and oestrogen can cause fluid retention, which will increase bodyweight.

You need fewer calories as you get older, because your metabolism slows down, so it is important to reduce your calorie intake to make sure that you don’t put on weight.


Please check out the previous and the next post of our series here:


Information based on Fast Facts for Patients: Menopause (Karger, 2021).

Menopause: Hormone Replacement Therapy and Breast Cancer

This is the eighth part of our series about the menopause based on our booklet “Fast Facts for Patients: Menopause”, which is freely available online. This article deals with hormone replacement therapy and breast cancer.

Many women are concerned about the risk of being diagnosed with breast cancer if they use hormone replacement therapy (HRT) because research studies have reported conflicting findings, namely that HRT increases, decreases or has no effect on breast cancer risk. This can be very confusing. A major reason for different study results is the different scientific methods used, which can sometimes overly influence positive or negative findings.

Bearing this in mind, current UK advice is as follows.

  • Taking oestrogen-only HRT is very unlikely to increase your risk of breast cancer and may even reduce the risk slightly. This is given to women who have had a hysterectomy.
  • The risk increases if you are taking combined HRT (oestrogen plus progestogen) but this increased risk only appears to occur in women who have been using combined HRT for a long time (more than 3–4 years). Also, the risk may be less with combined HRT preparations that contain micronised progesterone or dydrogesterone.
  • Most women will not be diagnosed with breast cancer if they have previously used HRT (oestrogen-only or combined).
  • For women at a low risk of breast cancer (that is, most of the female population), the benefits of using oestrogen-only or combined HRT will exceed potential harms.
  • It is useful to think about risk in a balanced fashion. Your risk of being diagnosed with breast cancer is affected by many different things. It may help to know how being overweight and drinking alcohol affect breast cancer risk so that you can see how HRT compares. The table below shows how many additional women would be diagnosed with breast cancer over the next 5 years in a group of 1,000 women aged 50–59 when different risk factors are taken into account. The important thing to note is that the excess risk is small, regardless of the risk factor.

Risk of being diagnosed with breast cancer

  • In women who develop an early menopause, that is, before the age of 50, years of HRT exposure are counted from the age of 50.
  • Using certain types of HRT can reduce the risk of bowel cancer, fractures due to osteoporosis (weakened bones) and heart disease.
  • Regardless of whether a woman uses oestrogen-only or combined HRT, deaths due to all causes are reduced compared with women who have never used HRT.

Some women are concerned about using HRT because of a family history of breast cancer or a previously diagnosed benign breast condition.

  • If you have a family history of breast cancer but have not had breast cancer yourself, talk to your GP. They will ask about your family history and may refer you to a specialist family history clinic or a regional genetics centre (depending on where you live). If you are considered to be at low risk after you have been assessed, you can take HRT.
  • The only benign breast conditions associated with a significantly increased risk of a breast cancer diagnosis are epithelial atypia and lobular carcinoma in situ. These two conditions can only be diagnosed if a breast biopsy is performed. HRT should be avoided if you have either of these diagnoses, but HRT is probably without risk for all other benign breast conditions.

Some Breast Cancer Facts

  • A woman’s lifetime risk of being diagnosed with breast cancer is 1 in 8. This sounds worrying but it also means that most women (7 in 8) will never be diagnosed with breast cancer in their lifetime.
  • The main risk factors for being diagnosed with breast cancer (for most women) are being female and older age. Most breast cancers (~80%) are diagnosed in women over 50 years old.
  • Postmenopausal lifestyle factors, such as obesity, high alcohol intake and HRT use, are associated with a small increased risk of breast cancer diagnosis. Most women will not be diagnosed as a result of being overweight, drinking alcohol or using HRT.
  • Survival rates for breast cancer have improved significantly over the last 50 years.
  • Contrary to popular belief, breast cancer is not the major cause of death in postmenopausal women. The greatest cause of death is Alzheimer’s disease and dementia, followed by heart disease, stroke, chronic lung conditions and influenza or pneumonia.


Please check out the previous and the next post of our series here:


Information based on Fast Facts for Patients: Menopause (Karger, 2021).

Menopause: Weighing Up the Benefits and Risks of Hormone Replacement Therapy

This is the seventh part of our series about the menopause based on our booklet “Fast Facts for Patients: Menopause”, which is freely available online. This article shows the benefits as well as risks of hormone replacement therapy.

When considering hormone replacement therapy (HRT), it is important to think about the benefits in terms of helping with symptoms during the menopause transition and the long-term benefits.

HRT protects against osteoporosis and cardiovascular disease (CVD) (depending on individual circumstances), and protects the vaginal and bladder tissues.

If you are under 60 and in good health, the benefits of HRT far outweigh the risks. However, the risks may be higher if you are overweight, smoke or have a family history of certain conditions. These risks need to be taken into account when considering which HRT is best for you.

Benefits and risks of hormone replacement therapy

The Long-Term Benefits of Hormone Replacement Therapy


Oestrogen is important for bone health. Bone density decreases after the menopause, increasing the risk of osteoporosis (thinning of the bones). This in turn increases the risk of fractures (breaks), particularly of the hip, wrist and vertebrae (the bones that make up the spine). Osteoporosis affecting the vertebrae can cause loss of height and back pain.

HRT reduces bone loss and the risk of fractures. A long-term US study of 81,000 postmenopausal women showed that the risk of hip fracture increased by 55% when women stopped taking HRT.

Women under 60 who have risk factors for osteoporosis (for example, fracture or loss of height) or a family history of the condition should consider HRT to reduce the risk of osteoporosis and fractures.

Terminology Tip

Osteoporosis means thinning of the bones. It particularly affects the wrists, hip and spine.

  • Regular weight-bearing exercise is important to keep your bones strong – walking, running or any other form of “impact” exercise.
  • It is also important that you have enough calcium and vitamin D in your diet, and exposure to sunlight, as these are also important for bone health.

Cardiovascular Disease

CVD – which includes stroke and heart attack – is the leading cause of death in women over 50. Heart attack is the most common cause of death in postmenopausal women.

Cardiovascular disease

Lack of oestrogen after the menopause is one of several factors that increase the risk of CVD. Others include smoking, obesity, high blood pressure, diabetes and high cholesterol.

Oestrogen (either natural oestrogen before the menopause or the oestrogen in HRT) improves blood lipids (fats): it increases high-density (“good”) cholesterol and decreases low-density (“bad”) cholesterol. This protects against the development of atherosclerosis (a fatty layer in the blood vessels), which is the main cause of CVD.

Starting HRT within 5–6 years of the menopause protects against CVD: it reduces the risk of CVD by 40% and decreases the death rate from CVD. HRT also decreases the risk of stroke if started during the menopause transition.

As long as you start HRT early, you do not need to come off it at age 60, but it may increase the risk of CVD if started after age 60.

The beneficial effects appear to be greater in women who take oestrogen only.


Oestrogen helps to maintain the cartilage that lines the bones in joints and the discs between the vertebrae in the spine.

Arthritis (hand X-ray)

Cartilage can become thinner after the menopause, increasing the risk of arthritis and causing backache and other joint pain.

The oestrogen in HRT protects the cartilage, decreasing the risk and severity of arthritis. Progestogens seem to neutralise some of this benefit, but the Mirena intrauterine system (IUS) can be used to reduce the amount of progestogen in the bloodstream.

Memory and Brain Function

Long-term use of HRT within the first 5 years of the menopause has been shown to improve memory and reduce the incidence of Alzheimer’s disease.

Other Beneficial Effects of HRT

  • Studies have consistently shown a 20% reduction in the incidence of bowel cancer in women who take HRT compared with those who don’t.
  • Women using HRT have a lower incidence of stomach cancer.
  • Cataracts have been shown to be reduced by 60–80% in women taking HRT.
  • Glaucoma (high pressure in the eye) may be less common in women taking HRT.
  • Oestrogens seem to protect teeth, possibly by preserving the jaw bone.

The Risks of Hormone Replacement Therapy

Blood Clots

Deep vein thrombosis (DVT; blood clots in the leg) is the most significant risk associated with HRT. Pieces of a clot may break off and lodge in a blood vessel in the lungs. This causes a blockage called a pulmonary embolism (PE). Symptoms can include shortness of breath, chest pain when breathing in and coughing up blood.

Blood clots

  • About 1% of PEs are fatal. Together, DVT and PE are referred to as venous thromboembolism (VTE).
  • The risk of VTE is very low in women under 60.
  • The risk increases with age. The risk is also increased by lifestyle factors such as obesity and smoking, and being immobile for a long time (for example, on long flights).
  • In a study of 1,000 women who took oestrogen-only HRT for 5 years during their 50s, 2 had DVT.
  • This number increases to 5 per 1,000 with combined HRT. However, there is no increased risk if oestrogen is taken as a patch, gel or spray.
  • There is also no increased risk of DVT with tibolone, which is sometimes used instead of HRT.

Cardiovascular Disease

HRT is known to protect against CVD when started early but women who start HRT after 60 have an increased risk of CVD. This is thought to happen because oestrogen dilates (stretches) the blood vessels, causing the fatty lining in the arteries to break off, which may cause a blockage.

If women do start HRT later in life, the lowest possible dose should be used and, ideally, patches, gel or spray rather than tablets.

Stroke is rare in women under 60 but it is the second most common cause of death in older women. The risk may be reduced by using the lowest dose of HRT, ideally applying it with patches, gel or spray rather than taking tablets.

Gall Bladder Disease

HRT has been found to increase the risk of gall bladder disease (gall stones and/or gall bladder inflammation). This risk may continue for some years after HRT is stopped. Using oestrogen via the skin as a patch, gel or spray reduces this risk and is therefore recommended for women who are potentially at risk (for example, if you are overweight).


Please check out the previous and the next post of our series here:


Information based on Fast Facts for Patients: Menopause (Karger, 2021).

Menopause: Hormone Replacement Therapy

This is the sixth part of our series about the menopause based on our booklet “Fast Facts for Patients: Menopause”, which is freely available online. This article focuses on hormone replacement therapy.

Hormone replacement therapy (HRT) replaces the oestrogen that you lose during the menopause transition, either alone or in combination with a progestogen. It helps to alleviate menopausal symptoms and also reduces the long-term consequences of the menopause.

HRT is recommended as the best treatment for menopausal symptoms – based on all the available evidence.

Products and delivery options for hormone replacement therapy

There are many products and delivery options for HRT, including tablets, patches, gels, a spray and implants. This allows your HRT to be tailored to your needs. A patch, gel, spray or implant may be more suitable than tablets for some women, including those at risk of blood clots. You may need to try more than one type of HRT to find the one that suits you.

HRT helps many women through their menopause transition, but it is not suitable for everyone.

Some women are concerned about the apparent risks of HRT reported in the media. The benefits and risks of HRT are explained in another post to help you decide whether you want to try HRT, and to help discussions with your doctor.

Combined Oestrogen And Progestogen HRT

Women who have a womb and are still having periods (even if they are irregular) need HRT that contains a progestogen. This balances the effects of variable levels of oestrogen (as occurs during the menopause transition), as unopposed oestrogen can cause the lining of the womb to become too thick.

Many women start on a sequential preparation, which includes a progestogen for 12–14 days of each 28-day cycle, so that there is a monthly withdrawal bleed (as with the contraceptive pill). Sequential HRT can be delivered as tablets or through the skin (transdermally).

Preparations with less progestogen can be used, but bleeding may be heavy (although infrequent).

Women then move on to a continuous combined oestrogen/progestogen product at about age 54. A progestogen is taken every day, so there is no monthly bleed. This “bleed-free” HRT provides the best protection for the lining of the uterus in the long term. (It isn’t used earlier in the menopause transition because it can cause irregular bleeding.) Continuous combined HRT is also delivered as tablets or through the skin.

Oestrogen-Only HRT

This is suitable for women who:

  • have had a total hysterectomy (removal of the womb and cervix)
  • have had a Mirena IUS fitted within the last 5 years – Mirena contains the progestogen levonorgestrel which is released into the cavity of the womb, protecting the lining.

Phytoestrogens and Other Alternative Therapies

Phytoestrogens are plant proteins that are similar to oestrogen, and they may help with symptoms during the menopause transition. They include soy products and isoflavones (red clover).

Evidence for the benefits of phytoestrogens in the menopause is mixed.

Red clover is more potent and better researched than soy, and some small studies have shown that it improves some symptoms in some women.

Red clover capsules are best taken at the time of day when symptoms are most troubling. They should not be taken by women with a risk or history of venous thromboembolism or hormone-sensitive cancers.

The use of black cohosh during the menopause is more controversial. It is approved for use in Germany as a non-prescription drug, but its effectiveness has not been proven. There are some concerns about its effects on the liver.

When considering any form of alternative therapy, it is important to think about both the risks and the benefits, as you would for a medicine prescribed by a doctor. If you don’t know whether something is likely to be beneficial, you may not want to expose yourself to even a low level of potential risk.


Testosterone is usually thought of as a male hormone; however, women also produce testosterone, but at much lower levels. Testosterone affects energy levels, sex drive (libido), muscles and joints. A woman’s testosterone level decreases significantly as she gets older.

Testosterone can be used during the menopause transition to improve libido (interest in sex). A small amount of a testosterone gel (one-tenth of the dose used for men) is applied to the skin. It is best applied to areas of skin where there is no hair, such as the inner forearm. (Testosterone can cause hair growth if applied to areas of skin with hair follicles.)

There are currently no licensed products containing testosterone available on the NHS. Some general practitioners are reluctant to prescribe testosterone out of licence.


Please check out the previous and the next post of our series here:


Information based on Fast Facts for Patients: Menopause (Karger, 2021).

Long-Term Consequences of the Menopause

This is the fifth part of our series about the menopause based on our booklet “Fast Facts for Patients: Menopause”, which is freely available online. This article addresses long-term consequences of the menopause.

So far, we’ve talked about symptoms that may occur during the menopause transition. However, it is also important to understand the long-term consequences of the menopause.

Oestrogen protects the cardiovascular system, bones, brain, and vaginal and bladder tissues. This protection is lost after the menopause, increasing the risk of CVD (heart attack and stroke), osteoporosis, cognitive decline, and vaginal and bladder problems.

While the menopause is inevitable, these long-term consequences are not. There are many ways to reduce the risk through lifestyle changes and HRT.

Cardiovascular Disease

  • Oestrogen protects the cardiovascular system (heart and blood vessels) during your reproductive years.
  • This benefit is gradually lost after the menopause, which increases the risk of CVD, including heart attack and stroke. CVD is the leading cause of death in women over 50.

Cardiovascular disease


  • Oestrogen protects the bones during your reproductive years.
  • After the menopause, women lose about 1% of their bone density each year. This puts them at risk of fractures.
  • Fractures related to osteoporosis are the most common cause of poor health in postmenopausal women.


Vaginal Dryness

  • Many women experience vaginal dryness during the menopause transition and postmenopausal years: instead of being stretchy and well lubricated, the tissues become dry and are more easily damaged.
  • Vaginal dryness may cause discomfort or pain during sex and may make smear tests painful.

Sex and the Menopause

For some women the menopause represents freedom from periods and the worry of becoming pregnant. However, for others the hormone changes during the menopause transition can affect libido (interest in sex) and cause problems such as vaginal dryness (urogenital atrophy) and soreness, which can make sex difficult or painful. This may in turn reduce sexual desire and arousal, and reduce pleasure and orgasm.

The changes associated with urogenital atrophy may affect sexual intimacy and the ability to have a physical loving relationship. Women also report feeling less healthy and attractive. This can lead to avoidance of sex and intimacy – an important part of a relationship for many people.

Urogenital atrophy is also a common cause of bleeding after sex (postcoital bleeding).

Practical Tips

  • Use lubricants to help during sex, and vaginal moisturisers to ease discomfort.
  • Explore other types of stimulation and intimacy with your partner. Sex doesn’t have to include penetration to be enjoyable.
  • Find alternative ways to show affection and share intimacy with your partner. Even if you don’t feel like having sex, affection and comfort are important and can help you feel better.

Further Steps If Needed

  • Your doctor can prescribe various treatments to help with urogenital atrophy.

Warning: If you experience any bleeding after the menopause, see your doctor.

Do I need contraception during the menopause transition?

Bladder Problems

  • The bladder and other tissues in the urinary system are also affected by oestrogen levels. The changes in the vagina and urinary system are sometimes called urogenital atrophy.
  • Many women experience bladder problems during the menopause transition and postmenopausal years. Problems include needing to pass urine more often (which may disturb sleep) and incontinence.

Cognitive Decline

  • Many women have problems with short-term memory and “brain fog” during the menopause transition, but this usually improves after the menopause.
  • The lack of oestrogen after the menopause may increase the risk of cognitive decline (decrease in memory and thinking skills) and possibly dementia.


Please check out the previous and the next post of our series here:


Information based on Fast Facts for Patients: Menopause (Karger, 2021).

Menopause: Managing the Common Symptoms

This is the fourth part of our series about the menopause based on our booklet “Fast Facts for Patients: Menopause”, which is freely available online. This article gives advice and practical tips on the management of the most commons symptoms.

Heavy Bleeding

Irregular or heavy bleeding is often an early symptom of the menopause transition. You may have less of a gap between heavier periods, or you may go for several months without a period.

Bleeding is unacceptable if it is heavy for you, regardless of the amount of blood you lose or how much sanitary protection you require.

Practical Tips

  • Keep a track of your periods for discussion with your doctor. Make a note of: when they start, how long they last, how heavy they are, any spotting in between periods, and any abnormal bleeding, pain, discomfort or other symptoms.
  • Wear panty liners or protective underwear if the timing of your periods is unpredictable.
  • Use high-absorbency tampons or pads during your period and change them every 2–4 hours.
  • Keep using contraception if you are under the age of 55. You can get pregnant during the menopause transition.

Further Steps If Needed

  • Talk to your doctor if you are concerned about heavy bleeding to rule out other causes, such as fibroids.
  • Talk to your doctor if you are feeling tired or look paler than usual. You may have anaemia. Your doctor can do a blood test and may give you iron tablets.
  • Non-steroidal anti-inflammatory drugs, such as ibuprofen, can help with menstrual cramps and may reduce your flow by up to 30%.
  • An intrauterine system (IUS) that contains 52 mg of the progestogen levonorgestrel reduces bleeding in most women without changing the menstrual cycle. Only the Mirena IUS is licensed for use as part of hormone replacement therapy (HRT).

Hot Flushes

Hot flushes are a sudden feeling of intense heat that spreads throughout the body. They may last seconds or minutes, and may be accompanied by reddening of the skin, sweating and sometimes palpitations (rapid heart rate). Hot flushes can lead to embarrassment and anxiety.

Hot flushes are one of the most common and well-known symptoms of the menopause transition. In a national survey conducted on behalf of the British Menopause Society (BMS), 79% of women aged 45–65 experienced hot flushes.

In general, women get hot flushes for an average of 5 years, although it can be a lot longer than this. Some women experience very few, whereas others may get several hot flushes a day.

Hot flushes

Practical Tips

  • Wear several thin layers of clothing, and choose clothes that you can remove quickly and easily.
  • Carry a fan with you, or try neck-cooling scarves/bandanas.
  • Cool your face with cold water if you feel a hot flush coming on.
  • Avoid triggers such as spicy food, alcohol and caffeine.
  • Check whether any medicine you are taking increases the risk of hot flushes; talk to your doctor if you think this is an issue.
  • Use relaxation and breathing techniques to avoid stress and anxiety, as they can make hot flushes worse.

Further Steps If Needed

  • HRT is the recommended treatment for hot flushes and is highly effective.
  • Femal (bee pollen) has been shown to reduce hot flushes.
  • Your doctor may prescribe medications called SSRIs or SNRIs (selective serotonin- or norepinephrine-reuptake inhibitors). These medications are used to treat depression but can also reduce perimenopausal symptoms. An SSRI may be helpful if HRT is not an option.
  • Pregabalin, gabapentin and clonidine may also help to reduce hot flushes. All these medications have other uses.

Night Sweats

Night sweats are hot flushes that happen during the night. They can disturb your sleep pattern (and your partner’s), resulting in tiredness. Some women may have difficulty coping because of lack of sleep.

In the BMS survey, 70% of women reported having night sweats.

Night sweats

Practical Tips

  • Wear fewer and/or looser clothes at night.
  • Have two single duvets on your bed, so that you and your partner can each choose the level of warmth that works for you.
  • Try a cooling pillow.
  • Look out for triggers, such as spicy food, alcohol and caffeine.
  • Check whether any of your medications are associated with night sweats; talk to your doctor if you think this is an issue.
  • Try not to worry about how much sleep you are getting.

Further Steps If Needed

  • HRT is highly effective in controlling night sweats and improving sleep patterns.

Vaginal Dryness

Instead of being stretchy and well lubricated, the tissues of the vagina become dry and are more easily damaged. The terminology for this may be confusing but the author’s preferred term is “urogenital atrophy”.

Vaginal dryness is a very common symptom of the menopause transition, but women are often embarrassed to talk about it.

Urogenital atrophy may cause discomfort or pain during sex. It can also make a smear test difficult or painful.

In the BMS survey, 35% of women said they had experienced vaginal dryness, with 18% of those who had this symptom saying it was unexpected.

Practical Tips

  • Use lubricants during sex.
  • Try vaginal moisturisers, available from pharmacies.

Further Steps If Needed

  • Your doctor can prescribe vaginal moisturisers, which can be used twice weekly to reduce vaginal dryness.
  • Your doctor can also prescribe treatments that deliver low doses of oestrogen directly to the vagina. These are available as pessaries, creams or a vaginal ring.
  • Another treatment option is prasterone, a pessary inserted into the vagina on a daily basis. It releases a precursor hormone (dehydroepiandrosterone or DHEA), which is converted in the lining of the vagina to oestrogen and testosterone with virtually no absorption into the bloodstream. Both oestrogen and testosterone are important for tissue quality.
  • In general, urogenital atrophy is best managed with treatments that are delivered directly to the vagina.
  • If these treatments do not work, your doctor may prescribe a drug called ospemifene. It is taken by mouth and improves tissue quality. It should be used alone, not added to HRT.
  • It is important to keep using whatever your doctor has prescribed for vaginal dryness for several months. Some products can be used for life.
  • If you are due for a smear test, use of these treatments for 3–6 months beforehand will help make the procedure easier. (It is important that you continue to have regular smear tests.)

Bladder Problems

During the menopause transition you may experience a sudden or constant need to pass urine (urge incontinence), leakages during exercise or when laughing or coughing (stress incontinence), or both of these (mixed incontinence). You may also find that it is painful to pass urine.

A lack of oestrogen causes the tissues in your vagina and urethra (the tube that carries urine out of the body) to lose their elasticity. The pelvic floor may also weaken.

  • Getting older also has various debilitating effects on the pelvic organs and tissues.
  • When you are standing, most of your bodyweight bears down on the pelvic floor, so being overweight makes this worse.
  • Pregnancy and childbirth put pressure on the pelvic floor, especially if a baby was large, labour was prolonged or instruments were used to help the delivery.
  • Coughing and constipation can also stress the pelvic floor.
  • Some women have poor-quality tissue for genetic reasons.
  • The bladder tissues are also affected by oestrogen, so bladder problems can occur during and after the menopause transition.
  • Overactive bladder can increase the need to pass urine, including during the night, which disrupts sleep.

Pelvic muscles

Practical Tips

  • Pelvic floor exercises (also called Kegel exercises) strengthen the pelvic floor and can therefore help with bladder control. These exercises can also increase sexual pleasure.
  • You can identify the muscles of your pelvic floor by squeezing around your back passage as though trying to stop wind and at the same time squeezing at the front as if trying to stop passing urine. The front and back contract at the same time.
  • Exercising these muscles can help to prevent bladder problems and reduce problems that already exist.
  • Many resources and apps are available to help you learn how to do these exercises and to remind you to do them (forever). For example, the NHS Apps Library recommends the inexpensive “Squeezy” app.
  • Ask your doctor to refer you to a specialist physiotherapist if you feel that you need more help.
  • Other forms of exercise can strengthen the pelvic floor, particularly yoga and Pilates.
  • Have your last drink at least 1 hour before going to bed.
  • Try to reduce your intake of caffeine and alcohol, as these can worsen symptoms.
  • Try to avoid spicy foods as these may also irritate the bladder.

Further Steps If Needed

  • Your doctor can prescribe various treatments to improve urogenital tissue quality in addition to a medication for overactive bladder.
  • Additional oral medication may be required for women with overactive bladder or mixed incontinence.

Effects on Your Mood And Mind

You may experience changing emotions (emotional lability) at this time of life for many reasons, but the changes in hormones during the menopause transition may make this worse.

Common emotional issues include irritability, such as snapping for no apparent reason, low mood, anxiety, difficulty coping, lack of motivation, tearfulness and worsening phobias.

Lack of sleep – because of anxiety or night sweats – can make these symptoms worse.

Some women also report becoming more forgetful, poor concentration and “brain fog”.

Women who are prone to mood changes are more likely to experience emotional lability during the menopause transition. Premenstrual symptoms may be worse during the menopause transition.

Brain fog

Practical Tips

  • Look after your general health and wellbeing. This will help improve your mood.
  • Try to exercise regularly; it is a particularly good way to improve your mood, as is being outdoors.
  • Try relaxation techniques, breathing exercises and/or mindfulness. These can all help.
  • Take time to look after yourself, away from the stresses of life and the demands of others.
  • Tell your partner and family why you are feeling irritable. They are likely to be more supportive if they understand what you are going through.
  • If these (or other symptoms) are affecting your work, talk to your human resources team.
  • Get support by talking to your friends and other women.

Further Steps If Needed

If mood changes are affecting your quality of life, contact your doctor for help. There are a variety of treatments, including HRT and antidepressants (SSRIs and SNRIs), that you can discuss.


Please check out the previous and the next post of our series here:


Information based on Fast Facts for Patients: Menopause (Karger, 2021).

How Will The Menopause Transition Affect Me?

This is the third part of our series about the menopause based on our booklet “Fast Facts for Patients: Menopause”, which is freely available online. This article shows how the menopause transition will affect you.

The menopause transition affects different women in different ways. There are lots of possible symptoms – you may not have any of them or you may have some or all of them, some or all of the time. Use the following table to keep a track of your symptoms. The most common symptoms are listed at the top of the table.

These are largely considered to be short-term symptoms – although some women continue to experience some of these symptoms for many years.

Note that poor sleep in a previously good sleeper is a common but subtle early sign of the menopause transition.

A national survey conducted on behalf of the British Menopause Society (BMS) found that one-half of women go through the menopause without consulting a healthcare professional – even though 42% said that symptoms were worse than expected. Half the women said that the menopause had affected their home life, and one-third said it had affected their work life.


My menopausal symptoms


Q: How do I know if I have started the menopause transition?

If you are aged 40–50, have any of the symptoms listed in the table and your periods are irregular, you are likely to be in the menopause transition.


Q: Do I need a blood test?

Most women do not need a blood test. However, if you are younger than 40 and have perimenopausal symptoms, your doctor will recommend that you have two blood tests 6 weeks apart to measure the levels of FSH. High levels of follicle-stimulating hormone (FSH) may indicate premature ovarian insufficiency, which should be treated with hormone replacement therapy (HRT).


Q: I’ve had a hysterectomy. How will the menopause affect me?

Perimenopausal symptoms are caused by changes in the hormones released from the ovaries. If you have had a hysterectomy (removal of the womb) but still have your ovaries, you may get perimenopausal symptoms (except heavy bleeding). However, the symptoms may start earlier than in women who still have a womb.

Women who start taking HRT after a hysterectomy and possibly after an oophorectomy (removal of the ovaries) can continue taking it to age 60 (and beyond if needed) to control menopausal symptoms.


Q: I take the combined contraceptive pill. How will the menopause affect me?

Every woman will reach the menopause. However, if you are taking a combined hormonal contraceptive, the perimenopausal symptoms may be masked and you may not know exactly when you reach the menopause.

For women under 50, combined hormonal contraception (pills, patches and vaginal rings) can help control perimenopausal symptoms (including heavy periods).

You can take combined oral contraception (“the pill”) until age 50. You will then need to change to a progestogen-only contraceptive method until age 55.

The Mirena intrauterine system (IUS) can be combined with oestrogen-only HRT to help with perimenopausal symptoms in addition to providing contraception.


Q: I don’t have periods because I have a progestogen-based IUS. How will the menopause affect me?

Perimenopausal symptoms are caused by changes in the levels of hormones released from the ovaries, so although you have an IUS you may still have perimenopausal symptoms (except heavy bleeding).

The Mirena IUS can be used as part of HRT to protect the lining of the womb (it provides the progestogen component). It is usually replaced every 5 years.


Please check out the previous and the next post of our series here:


Information based on Fast Facts for Patients: Menopause (Karger, 2021).

Menopause: Other Reasons than Natural Ageing

This is the second part of our series about the menopause based on our booklet “Fast Facts for Patients: Menopause”, which is freely available online. This article deals with other reasons for the menopause, such as surgical menopause, endometriosis, premature ovarian insufficiency, and chronic diseases.

Some women will experience menopause for reasons other than natural ageing. These include premature ovarian insufficiency or a chronic health condition that causes early menopause, or removal of their ovaries to reduce their risk of certain cancers or to alleviate pain associated with endometriosis.

Surgical Menopause

Women who have their ovaries removed as part of a subtotal or radical hysterectomy (removal of the womb and some associated tissues) can experience an abrupt onset of menopausal symptoms. Your healthcare professional should discuss ways to manage these symptoms before you have surgery and put in place an individualised treatment plan, guided by your medical history.

Most women can start hormone replacement therapy (HRT) immediately after surgery. This is best delivered through the skin to prevent any increase in the risk of blood clots in the legs or lungs. Oestrogen-only HRT is most common, but you may also need a progestogen for the first 12 months or longer if you have endometriosis or if your cervix was not removed as part of your surgery.

Ovaries that are not removed during a hysterectomy often fail early. You can consider using HRT as soon as you experience symptoms.

If you are over 45 years of age when your ovaries stop producing hormones reliably, you will not need a blood test and you can start HRT without delay after consulting your healthcare professional. Again, if you have endometriosis or you still have your cervix, you may also need a progestogen.


Endometriosis arises when tissue that is similar to the tissue that lines the womb (endometrium) grows in other places in the body.

Common sites include:

  • the ovaries, resulting in “chocolate” cysts
  • the Fallopian tubes, where it can cause fertility problems
  • the lining of the abdominal cavity (this is called the peritoneum; it covers, supports and protects the organs inside the abdomen and pelvis)
  • the muscle of the womb (in this location the condition is known as adenomyosis).

Less common sites include the belly button (which will bleed monthly), nose (monthly nose bleeds), lungs (monthly coughing of blood) and caesarean section scars (monthly pain).

Laparoscopy (keyhole surgery) is used to diagnose endometriosis. A small telescope is inserted into the abdomen via small incisions to look inside the body. The condition can be treated medically (often with hormones) or the deposits of endometriosis can be removed and/or scar tissue (adhesions) released during laparoscopy.

It is important that your healthcare professional considers your history of endometriosis when discussing your menopause management. If you have had surgical treatment, there may still be deposits of tissue in your body and you will need a progestogen to reduce the risk of hyperplasia (excess thickening of the tissue, which is a risk factor for cancer).

You may be eligible for a Mirena IUS (intrauterine system) if you have an intact uterus (that is, you have not had a hysterectomy). The progestogen released by the IUS will stop the endometrial tissue from thickening, no matter where in the body it is growing.

There are no clear guidelines on how long you will need a progestogen. Many clinicians recommend long-term use to reduce risk.

Premature Ovarian Insufficiency

Premature ovarian insufficiency (sometimes referred to as POI) occurs when the ovaries fail early (or are surgically removed) in women under the age of 40. There is usually no recognisable cause and it is particularly devastating in younger women who have not yet had children.

Women with POI are at increased risk of osteoporosis and cardiovascular disease (CVD).

Following an individualised risk assessment, you may be offered either combined hormonal contraception – pill, patch or vaginal ring – or HRT.

Fertility treatment using a donor egg is an option for women who wish to become pregnant.

Chronic Diseases

The menopause sometimes starts early in women with long-term (chronic) diseases, such as kidney failure, underactive thyroid, rheumatoid arthritis, epilepsy and migraine. Blood tests are recommended in women below the age of 40 (follicle-stimulating hormone (FSH) should be checked on two separate occasions, 2–6 weeks apart). HRT is not completely off limits to women with underlying health issues, but it is best delivered through the skin as a patch, gel or spray rather than taken orally.

Women with asthma may notice a change in symptom control around the menopause transition. HRT can also affect symptom control: sometimes it helps, but sometimes control deteriorates. It is important that you discuss any problems with your healthcare professional.


Please check out the previous and the next post of our series here:


Information based on Fast Facts for Patients: Menopause (Karger, 2021).

What Is the Menopause?

This is the first part of our series about the menopause based on our booklet “Fast Facts for Patients: Menopause”, which is freely available online. This article focuses on what the menopause is and what is happening to the hormones during this transition.

First, the Facts …

  • The menopause is your last menstrual period. It marks the end of your reproductive years and the start of a new phase of life.
  • Many women experience symptoms as they near the menopause – this time of life is known as the perimenopause or menopause transition.
  • The average age at which women start the menopause transition is 46 years. Periods usually stop by the age of 51.
  • The most common symptoms are heavy bleeding, hot flushes, night sweats, emotional instability, vaginal dryness and bladder problems. Symptoms can range from mild to debilitating.
  • Much can be done to help with symptoms during the menopause transition, including lifestyle changes, hormone replacement therapy (HRT) and treatments for individual symptoms.
  • For women under 60 years of age who are in good health, the benefits of HRT far outweigh any risks.

What is the menopause?

The menopause is specifically your last menstrual period. However, the word menopause is widely used to describe the time around this event when many women experience symptoms. This is more accurately known as the perimenopause. It can be thought of as the menopause transition (gradual change) from the reproductive years to the postmenopausal years.

During the menopause transition, the amount of oestrogen produced by the ovaries changes. Instead of having a regular menstrual cycle, it becomes unpredictable. The changing levels of oestrogen cause symptoms, such as heavy bleeding, hot flushes, night sweats, emotional instability, vaginal dryness and bladder problems.

Terminology Tip

Perimenopausal means the time around the menopause (“peri” means “around”). This period of menopause transition is the gradual change as your periods stop through to 12 months after your last period.

Postmenopausal means the time from 12 months after your last period (“post” means “after”).

What Is Happening with My Hormones?

During Your Reproductive Years

The menstrual cycle is a complex process, regulated by hormones.

When you are born, your ovaries contain lots of eggs (ova). From puberty, most of the time an egg matures each month and is released. This process is controlled by two hormones that are released by the pituitary gland – follicle-stimulating hormone (FSH) and luteinising hormone (LH). FSH and LH also stimulate the ovaries to produce the hormones oestrogen and progesterone.

The menstrual cycle

If the egg is not fertilised, levels of progesterone and oestrogen decrease and the lining of the womb is shed – this is your period.

The Menopause Transition

As you get older, your ovaries may not release an egg in every cycle. As a result, levels of both oestrogen and progesterone vary unpredictably.

The menopause transition

These unpredictable hormone levels cause the symptoms of the menopause transition. During this time, the lining of the womb may become too thick and is shed in a disordered way, resulting in irregular, heavy periods.

After the Menopause

After the menopause, oestrogen levels are very low and women generally experience fewer symptoms – although some women continue to have symptoms such as hot flushes.

Most importantly, the falling level of oestrogen increases the risk of cardiovascular disease (CVD) and osteoporosis. Lack of oestrogen also affects the condition of the vaginal and bladder tissues.

These are important issues to consider, regardless of your symptoms during the menopause transition, because you could live for 30 years in the postmenopausal period.


Understand the menopause transition and how it may affect you with this handy information sheet. Share it with friends and family, and use it to discuss your symptoms with your doctor.


Please check out the previous and the next post of our series here:


Information based on Fast Facts for Patients: Menopause (Karger, 2021).

Inflammatory Bowel Disease: How Will Your Condition Be Monitored?

This is the fourth part of our mini-series about the condition based on our patient booklet “Fast Facts for Patient and Their Supporters: Inflammatory Bowel Disease”.


The most important part of monitoring is simply meeting your doctor regularly.

Blood Tests

You will have regular blood tests to:

  • check your general health
  • detect complications of IBD such as malnutrition, or low levels of iron or vitamins
  • check for inflammation in the body by measuring the amount of C-reactive protein (CRP) – an inflammatory marker in the blood
  • detect the side effects of drugs (occasionally)
  • check the blood levels of some drugs (some patients).

Stool Sample Test

The levels of calprotectin, a protein made by white blood cells that is an indirect measure of bowel inflammation, can be measured from a small stool sample. This is a gut-specific test that is now frequently carried out in the clinic and at home.


Colonoscopy is the most important test. It is used to diagnose and assess your IBD, and also to monitor for early tell-tale signs of colon cancer.

A similar test for the upper gut is called gastroscopy or endoscopy and may be required for patients with Crohn’s disease in the esophagus, stomach or duodenum (the first part of the small intestine).


Before colonoscopy you will need to follow specific instructions for cleaning out the bowel so that the camera at the end of the colonoscope will be able to give clear images of the bowel wall.

How is the test done? You will be sedated and asked to lie on your side. A flexible tube about the diameter of a finger is inserted through the anus into the rectum and around the colon. Samples (biopsies) of the lining can be taken through the tube for examination.

Imaging Tests

Your doctor may occasionally request a computerized tomography (CT) or magnetic resonance imaging (MRI) scan to assess the extent of your disease and to check for complications of Crohn’s disease such as fistula formation and abscesses.

CT scans are X-rays taken in sequence to build up a picture of the whole area, rather like slices through a loaf of bread. You may be asked to have a special drink of “dye” before your scan.

MRI uses a magnetic field to scan the abdomen and build up an image. There are no X-rays involved in this procedure.

Having a CT or, particularly, an MRI scan can be claustrophobic and noisy, but it is not at all painful. The hospital will let you know if you need to make any preparations before the scan.

Computerized tomography / Magnetic resonance imaging

Bone Densitometry

This is a type of scan to check on the health of your bones. It involves clinically insignificant amounts of radiation.

Osteoporosis (thin bones) can occur if inflammation anywhere in the body is poorly controlled and this is often aggravated by the long-term use of systemic/oral corticosteroids.


Bone densitometry


Please check out the other posts of our mini-series here:


Information based on Fast Facts for Patients and their Supporters: Inflammatory Bowel Disease (Karger, 2019).

Asthma: How You Can Help Yourself

In accordance with the motto of this year’s World Asthma Day, “Uncovering Asthma Misconceptions”, this is the eighth post of our mini-series about asthma based on our patient booklet “Fast Facts for Patients and their Supporters: Asthma”. Here, we focus on how you can help yourself concerning asthma.

Take Your Inhaled Preventer Medication Correctly at the Right Times

If you struggle to remember to take your preventer, set reminders on your phone. Put your preventer next to your toothbrush and take it before you brush your teeth. You can then brush your teeth and gargle, which will help you avoid thrush).

Put a Written Asthma Action Plan in Place with Your Doctor

  • Know your triggers.
  • Know what medications you are taking and when.
  • Know how to recognize if your asthma is getting worse.
  • Know what to do if you have an attack. See your doctor immediately if your asthma is no longer well controlled. You may need to step up your medication.

Book Regular Asthma Reviews

Have at least one review a year. Take your Action Plan with you and keep it updated. Your doctor may want to change it, for example by lowering your dose if your asthma is well controlled.

Stay Active

Exercise is good for your asthma but make sure you have your asthma well controlled before you start exercising regularly. If your asthma is not well controlled, exercise could worsen symptoms and even induce an attack. Always have your reliever medication with you when you exercise. If you find that exercise worsens your symptoms, take 2–4 puffs 10 minutes before you exercise.

Find an exercise that you enjoy. Regular low-impact exercise (30 minutes, 5 times a week), such as walking at a steady pace, will help maintain a good level of fitness. Regular swimming will improve fitness and help with breathing control. Yoga may also help with breathing control.

Avoid exercising outdoors if pollution or high pollen counts trigger your asthma. If you have severe asthma, talk to your doctor or nurse about how you can build more activity into your day.

Lose Weight

Obesity can cause shortness of breath with or without asthma. It will also make your asthma harder to manage. Losing weight can improve your asthma and make your medications work better. Discuss your weight and your diet with your doctor.

Eat Well

A well-balanced diet that favors natural rather than processed foods is good for general health. High-fiber diets or high levels of omega-3 fatty acids (for example, in fish oils) may be beneficial. Fasting (for example, for religious or health reasons) does not seem to affect asthma symptoms. It may even have an anti-inflammatory effect. More study is needed in these areas.

Sleep Well

Symptoms are often noticeably worse at night, especially in children. It is a sign that your asthma is not well controlled, so talk to your doctor or nurse about it. Keep your reliever by the side of the bed. Prop yourself up on extra pillows if it helps you to breathe.

Be Prepared When Traveling

Find out about likely triggers in the place you are visiting and strategies to avoid them. If you are planning a trip to a non-English-speaking country, learn a few important phrases about your asthma. Make sure you pack all your medications. Also pack backups in a different bag. Talk to your asthma specialist if you are on add-on treatments to ensure your therapy is maintained.

What about Alternative Medicines?

There is no conclusive evidence that acupuncture, ionizers, homeopathic medicines or herbal remedies have any benefit for asthma.


Please check out the previous and the next post of our series here:


Information based on Fast Facts for Patients and their Supporters: Asthma (Karger, 2020).

Treatment of Severe Asthma

In accordance with the motto of this year’s World Asthma Day, “Uncovering Asthma Misconceptions”, this is the seventh post of our mini-series about asthma based on our patient booklet “Fast Facts for Patients and their Supporters: Asthma”. Here, we focus on the treatment possibilities of severe asthma.

If you have severe asthma, you are likely to need a higher dose of your preventer along with another inhaled medication, such as a long-acting reliever. Long-acting relievers will help to keep your airways open, but they do not treat the inflammation, so keep taking your preventer medicine as prescribed.

Other treatments will depend on the type of severe asthma that you have. It may take some time to find the right combination of drugs and doses that work for you.

Add-On Treatments for Asthma

Drug typeAbout the drugs
Montelukast• Reduces inflammation in the airways; tablets, swallowed with water, 1 hour before or 2 hours after food; also in syrup or powder form
• Often used to treat difficult asthma in children
• May cause sleep disturbance and, rarely, sudden depression
Theophylline• Relaxes the airway muscles; tablets or capsules every 12 or 24 hours
• May be given in hospital directly into a vein
• Works well in smokers with difficult asthma
• Drug levels monitored by regular blood tests
• Suitable for children
Long-term steroids (for example, prednisone)• Calm inflamed airways
• High doses, taken as tablets daily
• Near to last resort because of side effects
• Rarely used in children
Antifungal drugs (for example, itraconazole, voriconazole)• Attack fungus in the body
• Taken as tablets or capsules
• Monitored by regular blood tests as they can affect the liver and kidneys
• Not usually used in children
Note: read the leaflet that comes with your medicine. Don’t be daunted by the long list of side effects. You may get some or none of them.


Monoclonal antibodies (MABS) are an exciting area of medication development known as biological therapy (or biologics). They are tailormade molecules that prevent inflammation in your airways by blocking the chemicals that cause it.

MABS are used as an add-on therapy for people with severe allergic asthma. MABS are also being tested in other forms of severe asthma.


Monoclonal antibodyUsed to treat
Omalizumab (Xolair) Severe allergic asthma
Mepolizumab (Nucala) Eosinophilic asthma
Reslizumab (Cinqair, Cinqaero)Eosinophilic asthma
Benralizumab (Fasenra)Eosinophilic asthma


MABS can be very successful at reducing asthma attacks and symptoms. Some patients’ responses to MAB treatment have been so impressive that some specialists are talking about controlling severe asthma to the point of no symptoms at all (remission).

How do MABS work? Different MABS work in different ways, but ultimately they prevent or reduce inflammation.

How are MABS administered? MABS are usually injected under the skin in the upper arm, abdomen or thigh every 2–8 weeks. That may mean frequent hospital or clinic visits, although new preparations that you can inject yourself with are being developed.

Are there any side effects? Like all medicines, MABS have some side effects. But some MABS can be given to children as young as 6 years old. The most common problems are pain, redness, itching, swelling and/or burning around the injection site. These effects do not last for long. Although rare, some people can have a serious allergic reaction (anaphylaxis), so you will be carefully monitored after your injection.

Bronchial Thermoplasty

Bronchial thermoplasty (BT) is a form of surgery using a bronchoscope. It improves quality of life but not lung function. You will be given a sedative or general anesthetic before the procedure. A wire is passed down the bronchoscope and pulses of heat are delivered to the walls of the small airways to reduce the build-up of muscle around the airways.

The procedure is only suitable for adults in centers with specially trained staff. You will have three sessions with at least 3 weeks between each session. Each procedure takes 30–45 minutes, and you may need to be admitted for observation after the procedure.

You will need to take high-dose oral steroids to reduce the inflammation in the airways immediately after BT and sometimes before the procedure. Asthma attacks usually increase in the first 3 months after BT. Make sure you know how to manage your symptoms after the procedure.


Bronchial thermoplasty


Please check out the previous and the next post of our series here:


Information based on Fast Facts for Patients and their Supporters: Asthma (Karger, 2020).

Severe Asthma: What You Need to Know

In accordance with the motto of this year’s World Asthma Day, “Uncovering Asthma Misconceptions”, this is the sixth post of our mini-series about asthma based on our patient booklet “Fast Facts for Patients and their Supporters: Asthma”. After a thorough review it may become clear that your asthma is not only difficult to control but what is called severe asthma.

What Is Severe Asthma?

Severe asthma does not respond to the usual treatments, even high-dose inhaled steroids and a second preventer medication. It is sometimes called severe refractory asthma. About 4–8% of people with asthma have severe asthma.

Most people with severe asthma take a high-dose inhaled steroid and a high-dose long-acting reliever as prescribed, yet still have asthma symptoms and frequent asthma attacks.

What Is the Cause of Severe Asthma?

We do not yet know why some people get asthma and some people get severe asthma. It may be that more than one disease is working at the same time to cause a type of airway inflammation that does not respond to steroids. Severe asthma often coexists with gastroesophageal reflux disease (a type of heartburn), rhinitis or sinusitis (types of nasal congestion).

You can develop severe asthma at any age. It may develop slowly or be triggered by, for example, a virus or hormonal changes.

How Is Severe Asthma Diagnosed?

If you are taking treatment for difficult asthma correctly but there is no improvement after about 3 months, you will need further tests to try to find out what is causing the airway inflammation.

You are likely to have blood tests, and a sample of cells may be taken from the mucus in your airways. Your test results will show if there are high levels of white blood cells called eosinophils and neutrophils in your blood or mucus.

Sputum Induction

Sputum induction is a painless way of collecting a sample of sputum (saliva and mucus) from your lungs. You will be asked to inhale a fine mist of salty water through a mask, which will irritate your airways and cause you to cough. The sample is collected in a sterile cup.


Alternatively, a mucus sample can be collected with the use of a thin flexible fiber-optic ‘telescope’ called a bronchoscope.

A tube is passed through the nose, down the windpipe and into the large airways of the lung. Fluid is then injected down the tube and sucked out again to obtain washings of mucus from the lining of the airways.

A local anesthetic will be sprayed into your nose and mouth to prevent discomfort and coughing during the procedure. You must not eat or drink for 4–6 hours afterwards, until the anesthetic has worn off, as there is a risk of choking. This procedure usually takes about an hour. You will not need to stay in hospital for it.

The bronchoscopy can also show if there are other cells or lung diseases present.


Other Tests

A FeNO test combined with a blood test called a full blood count can show if you have a lot of eosinophils in your airways. However, FeNO tests can be tricky to interpret, as inhaled steroids and smoking can interfere with the results.

Different Types of Severe Asthma

Eosinophilic Asthma

Eosinophils are white blood cells that normally help you fight infection. Your lungs can become inflamed if you have a high number of eosinophils (high eosinophil count).

This is called eosinophilic asthma (sometimes called e-asthma). There are treatments for eosinophilic asthma.

Non-Eosinophilic Asthma

Non-eosinophilic asthma may be due to a high number of white blood cells called neutrophils. Neutrophils are very important in battling infections and are common throughout the body, but too many of them in the lungs causes inflammation. Your doctor will check the level of neutrophils in your sputum sample.

It is very difficult to treat an excess of neutrophils without hindering the body’s natural response to dangerous infections.

Allergic Bronchopulmonary Aspergillosis

Allergic bronchopulmonary aspergillosis is a very rare type of severe asthma in which a fungus called Aspergillus causes an allergic-like response in the airways. It may even get lodged in the lungs, causing a persistent form of severe asthma.

Severe Allergic Asthma

Severe allergic asthma is caused by a severe allergic reaction to a trigger.


Please check out the previous and the next post of our series here:


Information based on Fast Facts for Patients and their Supporters: Asthma (Karger, 2020).

What Are the Tests for Asthma?

In accordance with the motto of this year’s World Asthma Day, “Uncovering Asthma Misconceptions”, this is the fifth post of our mini-series about asthma based on our patient booklet “Fast Facts for Patients and their Supporters: Asthma”. Here, we focus on the tests your doctor will run if your symptoms suggest asthma.


Spirometry is a simple non-invasive test that measures how hard and how much you can breathe out (exhale). Sometimes how hard you can breathe in (inhale) is also measured in the same test. It is usually performed before and after you have inhaled reliever medication to see what difference the medication makes.

It is difficult to do spirometry on children under 5 years old. In very young children, it is best performed in a clinic that specializes in testing children.

You may hear your doctor talk about FEV1 or FVC. These are measurements that the doctor makes from your spirometry test.

FEV1 (forced expiratory volume in 1 second) is the maximum amount of air you can blow out in 1 second. People with asthma often (but not always) have a lower-than-normal FEV1. Your FEV1 should increase after a dose of reliever medication.

FVC (forced vital capacity) is the total volume you can blow out after taking the deepest breath possible. People with asthma usually have a normal FVC. If your FVC is lower than normal, you may have a different lung disease.




Peak Flow

One of the easiest ways to measure the force of blowing is with a peak flow meter. This is a cheap, portable, handheld device that is very easy to use. Peak flow meters are available at pharmacies and online. Peak flow can be used to diagnose asthma and to monitor your asthma after diagnosis.


Peak flow meter


Peak flow measurements reflect what is happening in your airways. Keep a daily record of your peak flow, morning and night. If your asthma is poorly controlled, your peak flow will be up and down.


Peak flow measurement


Challenge Testing

The bronchial challenge test (or airway hyperresponsiveness test) assesses how your airways respond to an asthma trigger. It is used only if other tests, including spirometry, do not clearly show that you have asthma. It is not recommended for children.

The test is carried out in hospital by trained staff who are on hand to reassure you if your breathing worsens. You will be asked to inhale an irritating substance (for example, a saltwater mist) through a handheld device or nebulizer. Your response will be monitored and, if necessary, treated.

FeNO Test

FeNO (fraction of expired nitric oxide) is another ‘blowing’ test that measures how much nitric oxide is being produced in your airways. The level of nitric oxide can help show what is causing the inflammation in your airways.


FeNO Test



FOT (forced oscillation technique) measures air pressure and flow in your airways. You will be asked to breathe normally in and out through a mouthpiece attached to a machine. FOT can be used on people who are unable to do spirometry, such as very small children, but other tests are usually needed to get a definite asthma diagnosis. Research is under way to see if this test can be used to diagnose asthma in very young children (under 3 years old).

X-Rays and Other Imaging

The features of asthma do not show up well on chest X-rays or other types of chest scans. However, scans do provide a picture of the lungs and can show if something other than asthma is going on, for example heart failure, emphysema or lung infection.

Allergy Testing

Skin prick tests can be carried out to find out if you have an allergy and what you are allergic to.


Skin prick testing


Drops of liquid containing small amounts of allergens (for example, animal fur, pollens, house dust mites, molds) are placed on your forearm. A small sterilized needle is then pressed into the skin to break the surface.

If an itchy weal appears that is larger than the positive control weal made by histamine, then you are allergic to that substance. The bigger the skin reaction, the more severe the allergy. You may respond to several substances.

It is also possible to test your blood for allergens, but the skin test can test for more allergens in one go.

Could My Breathing Difficulties Be Something Else?

Many illnesses can mimic asthma. Other illnesses that can cause breathing problems include chronic obstructive pulmonary disease, abnormal function of the vocal cords and wheezing after a viral infection. Your doctor will make sure it is asthma that you have and not something else. Talk to your doctor if you have any worries about your asthma diagnosis.


Please check out the previous and the next post of our series here:


Information based on Fast Facts for Patients and their Supporters: Asthma (Karger, 2020).

Metastatic Prostate Cancer: How Will the Disease Affect Me?

This is the third part of our mini-series about the condition based on our patient booklet “Fast Facts for Patient and Their Supporters: Metastatic Prostate Cancer”.

Bone Pain

Cancer cells that have spread to your bones activate the bone’s osteoblast (builder) and osteoclast (demolisher) cells, which build and recycle bone minerals. In turn, these bone cells activate the cancer cells. This cycle of activity between bone and prostate cancer cells results in abnormal bone production and destruction, which can cause pain.

What Does Bone Pain Feel Like?

Bone pain often starts in the lower back, pelvis or hips. Initially, the pain may be mild. Some men describe it as a dull ache, others a stabbing pain, which gets worse with movement. The bone may be tender to the touch. Over time the pain will increase and eventually become constant. The pain may affect your sleep or may even be incorrectly diagnosed as arthritic pain.

How Is Bone Pain Treated?

Everyone reacts differently to pain, so only you can describe how much pain you are in. Honest open discussions with your doctor are essential.


Numeric rating scale


With the right treatment, bone pain can usually be reduced or relieved. You should take pain relief regularly (every 3–6 hours), not on demand.

First, your doctor will make sure you are receiving the best possible treatment for your prostate cancer. You will then be prescribed painkillers according to your pain level. Your doctor will review your pain relief often, and adjust and substitute drugs as needed.

Tolerance to painkillers or drug dependency are not a problem for most people, but the side effects of these drugs will need to be managed; for example, constipation or effects on kidney function.

Ladder for cancer pain relief


Urinary Problems

Narrowing (stricture) or blockage of the urethra, or the symptoms of distant metastases, can cause:

  • difficulty urinating
  • visible blood in the urine (hematuria)
  • inability to pass urine (urinary retention).

Several small procedures that are not very painful can be carried out to relieve these symptoms. Dilatation usually provides short-term relief. A thin plastic rod is passed into the urethra to stretch it under local anesthetic.

If you have never had surgery or radiotherapy to the prostate, your urologist may propose a transurethral resection of the prostate (TURP). In most cases, this should be done sooner rather than later. An instrument is passed up the urethra to cut out the middle of the prostate, leaving an outer rim or shell. It is not a very painful procedure and most men go through it quite easily.

As long as TURP is carried out before cancer reaches the bladder neck and base, urine flow usually improves rapidly. The need to urinate often may take a few months to subside. Some men have an urgent need to go to the toilet and a burning sensation when urinating, but this usually disappears within a few days or weeks.

If the cancer spreads to the lymph nodes in the pelvis, the drainage tubes from the kidneys to the bladder (ureters) may become blocked, which can lead to kidney failure. In this situation, your urologist may insert a stent. Stents may need to be replaced every few months.

Bowel Problems

You may experience constipation, diarrhea, leakage from your back passage (fecal incontinence), urgency (rushing to the toilet), or stomach or anal pain.

What you can do to relieve: 
• Increase the amount of fiber that you eat, including fruit and vegetables
• Drink plenty of water
• Keep as active as you can
• Ask your doctor about taking laxatives
• Speak to your doctor about the medications you are taking; some can cause constipation
• Cut down on the amount of fiber that you eat
• Avoid alcohol, caffeine and spicy foods
• Speak to your doctor about the medications you are taking; some can cause diarrhea

Fatigue (Extreme Tiredness)

You may experience a decrease in energy, making it difficult to carry out your daily activities. Tiredness will also affect your concentration, emotions and sex drive. This may be caused by:

  • anemia (fewer red blood cells taking oxygen around the body) – this may also make you look pale
  • low testosterone (after hormonal treatment)
  • chemotherapy
  • radiotherapy
  • loss of appetite leading to a low calorie intake
  • substances produced by cancer cells which can affect the normal function of organs such as the liver and bone marrow
  • kidney failure
  • depression (often not diagnosed).

Your urologist will check that there is no reversible or treatable underlying condition causing your fatigue. Blood tests will reveal any problems in your bone marrow, thyroid, liver or kidneys and whether you have the right level of electrolytes and calcium.

To Help Combat Tiredness

  • Eat a well-balanced diet. If you are struggling to eat, nutritional support in the form of high protein drinks can also be of value.
  • Drink plenty of fluids.
  • Take vitamin and mineral supplements for any deficiencies. Vitamin D and calcium may be particularly beneficial.
  • Take gentle, regular exercise.
  • Use complementary therapies such as acupuncture, massage or meditation to make you feel better. (Note: only with the knowledge of your urologist and under the guidance of experienced practitioners in these fields who are aware of your condition).
  • Get enough sleep. If you can’t sleep, talk to your doctor.
  • Plan things you can look forward to, which will give you a lift (e.g. seeing friends, a round of golf, a trip to the theater).

Sexual Problems

Advanced prostate cancer can spread to the nerves and blood vessels that supply the penis, causing erectile dysfunction. Damage to the nerves or blood vessels can also occur during surgery or radiotherapy, although this is less likely in the hands of an experienced surgeon. Hormonal therapy can also cause impotence. Normal testosterone levels are essential for a healthy libido, energy and mood as well as good erections. For this reason, some patients may start on an oral anti-androgen to preserve sexual function.

Swelling of the Legs

Prostate cancer metastases can obstruct lymphatic drainage of the lower limbs, and in advanced cases the penis and scrotum (especially after radiotherapy), resulting in swelling called lymphedema. Too much fluid in the legs may cause pain, making it difficult for you to stay active. The skin can become red and infection can set in.

What You Can Do

  • Take care of your skin with regular cleaning and moisturizing
  • Avoid any pressure to the skin on your legs and feet
  • Report any sign of infection to your doctor and start treatment early
  • Take gentle exercise to help circulation
  • Use compression stockings and massage to reduce the swelling

Blood Clots

Large lymph nodes filled with prostate cancer cells can compress nearby veins that drain the lower limbs. This puts you at high risk of thrombosis (blood clots) in your legs, which can then travel to your lungs. Immediately after surgery, especially after extended lymph node dissection, you will be given anticoagulant injections under the skin. If you are found to have blood clots, you will then be given oral anticoagulants.

Eating Problems

You may feel sick or lose your appetite because of your cancer or the treatment you are having. Your doctor can prescribe anti-sickness drugs, and will be able to refer you to a dietician to help with supportive nutrition.


Please check out the other posts of our mini-series here:


Information based on Metastatic Prostate Cancer (Karger, 2017).

How Can You Deal with an Asthma Attack?

In accordance with the motto of this year’s World Asthma Day, “Uncovering Asthma Misconceptions”, this is the fourth post of our mini-series about asthma based on our patient booklet “Fast Facts for Patients and their Supporters: Asthma”. Here, we focus on how you can prevent and/or manage an asthma attack.

How Do I Prevent an Asthma Attack?

  • Take your preventer medication as prescribed. It is not unusual to miss a dose or two, but if you miss several days in a row your risk of having an asthma attack will increase. Make sure you are using your inhaler correctly. Make sure you always have a good supply of preventer medication.
  • Have a personalized written Asthma Action Plan to help you maintain good asthma control and guide you through the actions to take if your symptoms get worse. Make sure your Action Plan is clear about when to step up treatment. Make sure you have a good stock of all the treatments on your Action Plan.
  • Avoid triggers. Identify the triggers that worsen your symptoms and find ways to avoid them. Avoid people with coughs and colds to minimize your chances of picking up a virus.
  • Record your symptoms and peak flow readings between asthma reviews. Do not dismiss changes. If you are waking at night and/or finding things more difficult than usual, see your doctor.
  • Maintain good health and fitness. Eat healthily and stay active.
  • Get a yearly flu vaccine (and the pneumococcal vaccine if you are older). Discuss this with your doctor if you have an egg allergy. Flu vaccines do not cause attacks or worsen symptoms.
  • Stop smoking. This is the single best action you can take. If your child has asthma and you smoke, you are exposing them to harm. Even the smell of cigarette smoke on clothes can be an irritant for children with asthma.

How Do I Manage an Asthma Attack?

Despite appropriate treatment and good self-management, asthma attacks still happen. It is important that you know the signs and symptoms of an attack, you can recognize how severe it is, and you know what to do when one happens. These steps should be clearly shown on your Asthma Action Plan, and you should also talk to your doctor about this so that you know what medications to take.

Severity of asthma attack signs


Please check out the previous and the next post of our series here:


Information based on Fast Facts for Patients and their Supporters: Asthma (Karger, 2020).

Inflammatory Bowel Disease: How Can You Help Yourself and Stay Healthy?

This is the third part of our mini-series about the condition based on our patient booklet “Fast Facts for Patient and Their Supporters: Inflammatory Bowel Disease”.

What Can You Do to Help Yourself?

  • Don’t despair when told the condition cannot be cured. Doctors don’t cure most conditions, they control them.
  • Take responsibility for your IBD. Don’t deny the diagnosis – defy it!
  • You can’t do it all alone. Choose a doctor who is interested in your condition and who is committed to long-term follow-up. Resist “doctor hopping”.
  • Stay in touch. Your doctor needs to get to know you and needs to see you when you are in remission as well as in relapse.
  • Don’t smoke. Smoking aggravates Crohn’s disease. Although stopping smoking can trigger a relapse of ulcerative colitis, the disadvantages of smoking outweigh any benefit from continuing to smoke.
  • Know your tablets, including the doses and how often you take them.
  • Don’t compare symptoms or treatments with others. No two patients are alike.
  • Know your immunization status/vaccination history. This is important because your doctor may want to treat your inflammation with drugs that suppress the immune system.
  • Be wary of what you read on the internet. Find reputable balanced sources of information.
  • Look after your general health.
  • Learn to accept uncertainty but know that it can be reduced by participating in the planning of your own care with your doctor’s team. Stick to the plan.

How to Stay Healthy

Healthy lifestyle advice given to the general public also applies to people with IBD.

Eat Well

Your diet may change at different stages of the disease and may depend on any complications that you have. Nutritional deficits are less common in ulcerative colitis than in Crohn’s disease. When disease is active, most patients will resort to fluids and a light diet that they can tolerate. This is acceptable in the short term (days) until you regain control.

IBD: What should I eat?

Sun Protection

Wear sunscreen every day on exposed areas of your body. Some drugs used to treat IBD (e.g. mercaptopurine/6MP [Purinethol]) make skin more sensitive to the sun.


Exercise is no less important in IBD than it is for the rest of the population. Your doctor can advise you on appropriate levels of exercise, but you should suspect that you are doing too much if it becomes like work, excessively competitive or unenjoyable.

IBD: Why should I exercise?

Don’t Smoke

IBD: Why should I stop smoking?

Tips to Help You Quit Smoking

  • Make a list of reasons to quit, then promise to quit, set a date and stick to it.
  • Think about what you eat and drink. Some foods make cigarettes taste horrible (e.g. fruit and vegetables), so eat more of those. Some drinks are more likely to make you reach for a cigarette (e.g. alcohol, tea, coffee), so avoid those.
  • Exercise more – even a short walk can help to reduce cravings.
  • Try to avoid situations where others are likely to be smoking.
  • Think positively – even if you have tried before, you are going to do it this time!
  • Get support from family and friends.


Please check out the other posts of our mini-series here:


Information based on Fast Facts for Patients and their Supporters: Inflammatory Bowel Disease (Karger, 2019).

Metastatic Prostate Cancer: Why Is My Cancer Staged?

This is the second part of our mini-series about the condition based on our patient booklet “Fast Facts for Patient and Their Supporters: Metastatic Prostate Cancer”.

Cancer Staging

Staging is a way of recording how far your cancer has spread. Only advanced (late-stage) prostate cancer metastasizes. All prostate cancers are described or staged by the ‘TNM’ system and a Gleason grade and score.

TNM Staging

  • T – describes how far the Tumor has advanced, from T1 to T4.
  • N – describes whether one or more lymph Nodes are affected by the cancer. N1 disease means that your lymph nodes contain cancer.
  • M – describes evidence of Metastatic cancer outside the prostate. M1 disease means that your cancer has spread beyond the prostate.


TNM cancer staging


Metastatic prostate cancer is staged as T3N1M1 or T4N1M1, or any higher N or M stage. You may not be told your T or N stage if your cancer has spread to your bones.

Gleason Score

The Gleason score describes how aggressive your cancer is, in other words how quickly it will spread. A biopsy of your cancer cells will show different patterns under the microscope, which can be graded from 1 to 5.


Gleason score


There may be more than one grade of cancer in your biopsy samples. Your overall Gleason score is worked out by adding the most common grade seen in all your samples to the highest grade seen (e.g. 3+5).

The higher your Gleason score, the more aggressive your cancer, and the more likely it is to spread.

Gleason scoreWhat does it mean?
6Slow-growing cancer
7Moderate-growing cancer
8, 9 or 10Fast-growing cancer


Please check out the first post of our mini-series here:


Information based on Metastatic Prostate Cancer (Karger, 2017).

Asthma: What You Need to Know about Triggers, Risk Factors, Types and Severity

In accordance with the motto of this year’s World Asthma Day, “Uncovering Asthma Misconceptions”, this is the third post of our mini-series about asthma based on our patient booklet “Fast Facts for Patients and their Supporters: Asthma”. Here, we focus on the triggers, risk factors, types and severity of asthma.

Risk Factors

Asthma can develop at any age. The causes of asthma vary from person to person, and there are a number of risk factors (such as your genes, level of immunity, physical development and interactions with the environment) that increase the likelihood of asthma developing. They are different from the ‘triggers’ that bring on an asthma attack or cause asthma to worsen.


Risk factors of asthma



Triggers do not cause asthma to develop, but they can make the symptoms of asthma worse or cause an asthma attack. Triggers are any substance or physical irritant that bring on asthma symptoms. Some bring on symptoms rapidly, but once the trigger is removed the symptoms tend to resolve.

Once you know what your triggers are you can try to reduce your contact with them (although some triggers are hard to avoid). This will reduce your risk of attacks and help you to manage your asthma better.


Triggers of asthma



Allergens can be a risk factor for asthma as well as a trigger. As triggers, they often cause serious symptoms. If you think you may be allergic to something, talk to your doctor about allergy skin testing.

AllergenWhat you can do
• Common in areas where moisture builds up• Keep surfaces dry
• Check for mold behind appliances
• Check for mold before buying a new home
Animal dander
• Small particles of skin in animal fur that contain proteins (the true allergen)
• Animal saliva and urine can also contain these proteins
• Allergy to cat fur is common; allergies to dogs, rodents and birds also cause asthma symptoms
• Allergies to horse and rabbit hair can cause life-threatening attacks
• Try to avoid animals that make your symptoms worse
• If you have a pet that affects you, keep the animal outside and sleeping area regularly wash your pet’s fur and sleeping area
House dust mites
• Present in nearly all homes
• Most commonly found in bedclothes, mattresses and carpets
• Numbers increase in humid warm conditions (over 55% humidity, over 15°C)
• Vacuum daily
• Wash bedclothes frequently (in a hot wash over 55°C)
• Avoid man-made materials
• Replace carpets with hard flooring
• Common food allergies include nuts (especially peanuts), shellfish, eggs and berries
• Allergy to these foods can cause anaphylaxis (a sudden and serious allergic reaction), which can be fatal
• Check food labels and ask about ingredients in restaurants
• Be aware that peanut oil is commonly added to some foods
• If you have a serious food allergy, always keep an epinephrine (adrenaline) auto-injector with you and make sure you, and the people around you, know how to use it
• Grasses, trees, flowering plants and weeds all release pollens
• Symptoms are often seasonal depending on when and how often different types of pollen are released
• Thunderstorms can break pollen into smaller pieces that go deeper into the small airways
• Be aware of pollen count forecasts; take allergy medications before symptoms start
• Plan outdoor activities for low-pollen times
• Stay indoors and keep windows shut on windy days and during thunderstorms
• Can cause both anaphylaxis and asthma symptoms on contact• Avoid contact with, for example, latex gloves, condoms or balloons

Different Types of Asthma

  • Childhood asthma is the most common type of asthma. It is often caused by allergies or exposure to viruses. Symptoms resolve in over two-thirds of children as they grow older.
  • Adolescent- and adult-onset asthma can develop after a severe viral illness or from an allergy.
  • Occupational asthma is triggered by certain exposures in the workplace (for example, dust or chemicals).
  • Seasonal asthma improves or worsens as the seasons change. Examples of triggers are cold weather and different types of pollen.
  • Exercise-induced asthma occurs during and after exercise.
  • Catamenial (or perimenstrual) asthma worsens around the time of a woman’s period.

Severity of Asthma

Your doctor will grade your asthma as mild, moderate or severe, depending on how bad your symptoms are and the level of treatment you require. Asthma with a lot of symptoms and/or very serious attacks or worsening symptoms is often described as difficult to control or severe.


Please check out the previous and the next post of our series here:

Please also check out the knowledge transfer “Let’s Talk about Asthma and Fungal Spores” published on this blog.


Information based on Fast Facts for Patients and their Supporters: Asthma (Karger, 2020).

What Causes Inflammatory Bowel Disease and How Is It Treated?

This is the second part of our mini-series about the condition based on our patient booklet “Fast Facts for Patient and Their Supporters: Inflammatory Bowel Disease”.

What Causes IBD?

The cause(s) of ulcerative colitis and Crohn’s disease are not fully known, but doctors are beginning to understand how these conditions happen. Early life events combined with a genetic (inherited) predisposition for IBD and various environmental or lifestyle risk factors stir up the immune system into an excessive inflammatory process that causes the tissue damage and symptoms.

Early Life Factors

The influence of modern lifestyle and the environment starts at birth and infancy, long before the onset of disease. We know this from studies of migrants. The younger the person is when they move from a region of the world with low levels of IBD to a region with high levels of the disease, the greater the risk of developing IBD in the new region. In addition, the children of migrants have a greater risk of developing IBD than the children of those who do not migrate.

Your microbiome is critical to the way in which your bowel, immune system and most internal organs mature.


Your microbiome


A normal microbiome early in life determines whether your immune system matures properly and learns how to tell what is harmless and what is harmful in the outer environment.

Anything that disrupts your microbiome in infancy may affect how your immune system matures. If your body’s community of microbes is disturbed, it increases the risk of your immune system becoming hypersensitive or failing to function normally in later life.

Beyond Your Control

No single lifestyle or environmental factor caused your disease. Almost every aspect of modern life has the potential to modify your microbiome – the food you eat, the house you are raised in, the size of your family, even your mode of birth. Other than smoking, there is little about modern life that you have complete control over.

Researchers are trying to find out how important each of these factors is. For example, we know that early exposure to antibiotics increases the risk of developing IBD in later life.

There is nothing you can do about the past and no one is to blame. However, you do have control over the future and can take steps to improve not only your IBD but also your general health.

Why Me?

Why me? Why did I get this? Why now? These are the questions every patient asks. You are not alone.

As modern societies have developed, IBD has become more common, with 100–200 cases per 100,000 people in Western countries for both Crohn’s disease and ulcerative colitis. Why some, but not all, people with the same lifestyle get the disease is not clear.

The “Perfect Storm”

There are over 100 genes that increase the likelihood of IBD developing, but these genes are common and are usually not enough on their own to cause the disease. Similarly, the environmental or lifestyle factors that increase the risk of IBD are also common.

Research has suggested that a coincidence of events is required, a kind of “perfect storm”, by which environmental and lifestyle factors interact with one or more genes, in the presence of one or more trigger(s) such as smoking or an infection, and these combine to launch the onset of inflammation.

Almost certainly, there are many other factors that increase the risk of IBD that medical science has not yet discovered.

How Is IBD Treated?

IBD is a marathon not a sprint, with the finish line being control over the disease to live a normal fulfilled life. Other than the hassle of taking medications and seeing your doctor regularly, this is achievable.

The Doctor–Patient Relationship

This is a two-way conversation for both to inform, listen and engage. At first, it will be crisis for you, routine for your doctor, but as you learn more and remove fear of the unknown you will gain confidence. Likewise, when your doctor gets to know you better, he/she will be better able to provide advice and treatment that suits you.

Get Informed, Get Support

Choose what you read on the internet wisely. It is not censored for inaccuracy. Select websites from reputable organizations. Know that you are not alone. There are support groups that most patients find helpful to join.


Patient support

Take Control

Be an active participant in the management of your IBD. This does not mean that your IBD should dominate your life, but:

  • Take responsibility for your own follow-up.
  • Keep hospital appointments.
  • Attend to your general health.
  • Don’t smoke.
  • Anticipate and prepare. For example, your doctor may recommend a medication that suppresses or modifies your immune system. You will need to be fully vaccinated for common infections well in advance of using such a drug. Update your immunization status with your doctor.


Please check out the first post of our mini-series here:


Information based on Fast Facts for Patients and their Supporters: Inflammatory Bowel Disease (Karger, 2019).

What Is Metastatic Prostate Cancer?

This is the first part of our mini-series about the condition based on our patient booklet “Fast Facts for Patient and Their Supporters: Metastatic Prostate Cancer”.

The word “metastasis” comes from the Greek “to move”. Metastatic prostate cancer refers to cancer cells that have traveled from the prostate to other parts of the body.

First, the Facts

  • Prostate cancer can spread to any part of the body, but most commonly to the bones and lymph nodes. How you feel will depend on where the cancer has spread to.
  • There is no cure for metastatic prostate cancer, but hormonal treatments delay progression of the disease in most men for, on average, 2 years, and many men benefit for much longer.
  • When initial hormone treatment stops working, there are other therapies that will improve quality of life, help to manage pain and extend life, although sometimes only for a few months.
  • Improvements in palliative care in recent years mean that, in the final stages of the disease, pain and discomfort can be minimized.
  • Metastatic prostate cancer affects every man differently. A frank, open discussion with your doctor about your future health will help you make the best decisions for you.

How Does Prostate Cancer Spread?

To understand how prostate cancer spreads, you need a minimal knowledge of the biology of the disease. First, we must look at the anatomy of the prostate.


Anatomy of the prostate


Learn about Lymph

The lymphatic channels are initially filtered through lymph nodes in the pelvis. Cancer cells from the prostate travel through blood vessels and lymphatic channels to other parts of the body where they re-implant and start to grow.

Where Does Prostate Cancer Spread to?

Prostate cancer does not spread in a predictable way, but it can spread to any part of the body. The prostate is surrounded by a rich lymph system, so prostate cancer tends to spread to the lymph nodes (lymph glands) in the pelvis first, and then to the bones of the lower spine and pelvis. Prostate cancer cells continue to multiply in these lymph nodes, eventually spilling over into the bloodstream.


Spreading of prostate cancer


Information based on Metastatic Prostate Cancer (Karger, 2017).

What Are the Symptoms of Asthma?

In accordance with the motto of this year’s World Asthma Day, “Uncovering Asthma Misconceptions”, this is the second post of our mini-series about asthma based on our patient booklet Fast Facts for Patients and their Supporters: Asthma. Here, we focus on the most common symptoms of asthma.


Symptoms of asthma


You don’t need to have all these symptoms to have asthma.


Wheezing is a high-pitched sound (whistling or squeaking) caused by the turbulence of air in your narrowed airways as you breathe in and out. When it is bad, you will be able to hear the wheeze outside your chest, but during quiet phases your doctor will need a stethoscope to hear it.

Wheezing that is caused by triggers, such as viruses, allergens or irritants, is strongly suggestive of asthma, especially when it gets better with reliever medication. Wheezing due to asthma usually comes and goes, especially in younger people. Not everyone with asthma wheezes; older people with asthma are less likely to wheeze, for example. Wheezing can also be caused by other illnesses, especially in children.


The asthma cough is usually repetitive and irritating. It can be particularly persistent at night, during exercise or when laughing. However, there are many other causes of coughing. If you develop a persistent cough, do not assume that it is linked to your asthma – talk to your doctor about it.

Shortness of Breath

We all become breathless from time to time, for example after exercising or even from emotional stress, but in asthma it is due to the narrowing of the airways, which limits the amount of air moving in and out of the lungs. In addition, mucus may block your airways completely. If your asthma symptoms are bad you may even feel breathless when you are resting.

People with asthma can become breathless during gentle exercise because of persistent airway narrowing. This is different from exercise-induced asthma, which is an asthma attack due to exercise. Other physical problems, such as heart failure, can also cause breathlessness.

Breathing retraining can help to reduce long-term breathlessness. A breathing retraining method called Buteyko has been shown to reduce the need for reliever medications.

Chest Tightness

Chest tightness is not just related to the extra effort you have to make to breathe when you are short of breath – when people exercise very hard they do not get chest tightness and we know that the sensation of chest tightness is not relieved by ventilator support.

Current thinking is that the sensory pathways that give the feeling of tightness are related to the receptors involved in the narrowing of the airways.


Mucus (also known as phlegm) is essential to maintain healthy lungs. Mucus lines the airways and traps dust, irritants and infections that enter with the air. Small hairs in the airways (cilia) move the mucus up to the mouth and nose, where you clear it by swallowing, coughing, sneezing or blowing your nose. This stops potentially harmful things from entering the deeper areas of the lungs.

A normal amount of mucus is about 20–30 mL a day (a bit more than a tablespoon). Most people do not see this amount as it is slowly cleared throughout the day and night and mostly swallowed rather than coughed up.

In asthmatic airways, mucus is sometimes produced in larger-than-normal quantities. It can also vary in color and consistency. Excess mucus can be a sign of a chest infection or exposure to irritants and pollution. It can also be a symptom of an asthma attack.

When the airways become inflamed, the production of mucus is the airways’ attempt to remove the cause of the narrowing by mucus clearance. However, when the airways are narrow the mucus can block the whole airway (mucus plugging), which makes the problem worse. Mucus plugging can starve whole parts of the lung of air. This can lead to death during an asthma attack.

Other Symptoms

Narrow inflamed airways can cause other unusual symptoms.

  • Frequent sighing and rapid breathing
  • Difficulty sleeping
  • Difficulty concentrating through the day
  • Persistent tiredness

All the symptoms described above can occur in other diseases, even when the main organ affected is not the lungs (for example, heart failure). That is why it is so important to test for asthma, to make sure you get the right diagnosis and treatment.


Please check out the previous and the next post of our series here:


Information based on Fast Facts for Patients and their Supporters: Asthma (Karger, 2020).

May 19 Is World IBD Day: What Is Inflammatory Bowel Disease?

World IBD Day is a global event which takes place on May 19 each year. It is intended to raise awareness of Crohn’s disease & ulcerative colitis, which are collectively known as inflammatory bowel disease (IBD). Coordinated by the European Federation of Crohn’s & Ulcerative Colitis Associations (EFCCA), it involves patient organizations representing over 50 countries on five continents. The aim of this year’s World IBD Day is to promote the discussion on IBD and wellbeing.

On the occasion of World IBD Day we are starting a mini-series about the condition based on our patient booklet “Fast Facts for Patient and Their Supporters: Inflammatory Bowel Disease”.

Inflammatory Bowel Disease: The Facts

  • Inflammatory bowel disease (IBD) comprises two distinct disorders with overlapping features: ulcerative colitis and Crohn’s disease.
  • These are chronic (long-lasting) conditions that come and go. They flare up and then become inactive. A flare up is called a relapse and an inactive time is called a remission.
  • Ulcerative colitis is excessive inflammation of the large bowel (colon and rectum). Crohn’s disease is patchy inflammation anywhere inside the digestive system, from the mouth to the anus.
  • No two patients are alike. Ulcerative colitis and Crohn’s disease differ greatly from one patient to another, and each disorder varies within the same patient over time.
  • Modern medicine has greatly improved the outlook for patients with IBD. These disorders can be controlled, and patients can live full productive lives.

Is IBD the Same as IBS?

No! IBD is not the same as the more common irritable bowel syndrome (IBS). The gastrointestinal system is not inflamed in IBS.

Who Gets IBD?

Ulcerative colitis or Crohn’s disease can occur in both men and women of any age but are most common in late adolescence or early adulthood. These disorders can be controlled, and patients live full productive lives.

Modern medicine has greatly improved the outlook for people with IBD and there is a lot that you can do to help yourself!

What Is Ulcerative Colitis?

Bloody diarrhea is the most common symptom. You may also notice slime (mucus) in your stools and have cramping pain when you have a bowel movement.

The severity of symptoms ranges from a few blood-stained bowel movements to a lot of diarrhea with dehydration and anemia from loss of blood. When inflammation is in the rectum only (proctitis), you may have bleeding with formed stools. Ulcers only occur in a few patients and only when the condition is severe.

The inflammation begins in the rectum. It may extend higher to a variable extent or involve the entire colon.

What Is Crohn’s Disease?

Symptoms depend on the part of the gut affected by the disease.

Patients with the most common pattern of disease usually notice pain and/or tenderness in the lower right abdomen, and may have diarrhea and weight loss.

Further Information

Further information on IBD can be found here:


Information based on Fast Facts for Patients and their Supporters: Inflammatory Bowel Disease (Karger, 2019).

May 5 Is World Asthma Day: What Is Asthma?

World Asthma Day, which takes place on May 5 in 2021, is organized by the Global Initiative for Asthma to raise awareness for asthma worldwide. This year’s theme is “Uncovering Asthma Misconceptions”. We take this opportunity to start a mini-series about the condition. This and the following posts are based on our patient booklet Fast Facts for Patients and their Supporters: Asthma.

Five Facts about Asthma

  • Asthma is a chronic (long-term) condition in which your airways become inflamed and swollen, often with too much mucus production. This reduces the amount of air flowing in and out of your lungs.
  • Asthma is common in children, but you can develop it at any age.
  • The main symptoms of asthma are wheezing, coughing, shortness of breath and chest tightness. These symptoms may occur day to day, with episodes of sudden worsening, often after exposure to a “trigger” such as pollen, pet fur, exercise or changes in the weather.
  • It is important to be in control of your asthma. Uncontrolled asthma can be extremely debilitating; a severe attack can lead to death.
  • Asthma is not a curable disease but there are many successful treatments that control the symptoms, even if you have difficult-to-control or severe asthma.

Understanding Your Airways

Asthma affects breathing tubes (airways) called bronchioles and bronchi that run from your windpipe to your lungs. These airways supply air to tiny fragile sacs called alveoli.



The airways are complicated structures made up of several layers. Each tube is lined by cells that have fine hairs (cilia) that keep the airway clean.



In asthma, the airways become narrower because:

  • the muscle around the airways tightens
  • the lining of the airways become inflamed and swollen
  • mucus builds up in the airway.

In addition, air gets trapped in the alveoli, stopping the proper exchange of oxygen and carbon dioxide.



As a result, it becomes more difficult to breathe in and out, and you will experience symptoms such as chest tightness, wheezing or coughing.

Bronchi are the large airways that connect your windpipe to your lungs. Bronchioles are smaller airways in the lungs that branch from the bronchi. Alveoli are the tiny air-filled sacs at the end of the bronchi where gases (oxygen and carbon dioxide) move between the lungs and the blood.


Please check out the previous and the next post of our series here:


Information based on Fast Facts for Patients and their Supporters: Asthma (Karger, 2020).

Irritable Bowel Syndrome: April Is IBS Awareness Month

Every year in April, IBS Awareness Month as well as World IBS Day (April 19) aim to raise awareness about irritable bowel syndrome (IBS). These events encourage those who have symptoms of IBS to seek medical advice and aim to reduce the stigma associated with IBS by encouraging people to talk more about this condition.

IBS is a condition that affects between 5 and 20% of the population. The exact number is difficult to determine as not everybody is seeing a healthcare professional about symptoms like stomach cramps, bloating, diarrhea and constipation, which could be signs of IBS. Sadly, the cause for this condition is still unclear, but there are treatment options that help to control the condition.

If you suffer from a gastrointestinal condition and suspect this could be IBS, check out the information we offer on our website Embarrassing Problems.

Further information on IBS can also be found here: