Learn about myelofibrosis, a rare bone marrow cancer. Understand symptoms, diagnosis, treatment options, diet advice, daily living tips, FAQs and when to see a doctor.
Overview
What is myelofibrosis?
Myelofibrosis is a rare type of blood cancer that affects the bone marrow.
The bone marrow is the soft tissue inside the bones where blood cells are made. In myelofibrosis, scar tissue builds up inside the bone marrow. This makes it harder for the marrow to produce normal blood cells.
As a result, patients may develop:
- Low red blood cells, causing anaemia
- Low or high white blood cells
- Low or high platelet counts
- An enlarged spleen
- Tiredness, weight loss, fever or night sweats
Myelofibrosis belongs to a group of blood conditions called myeloproliferative neoplasms, or MPNs.
There are two main types:
- Primary myelofibrosis, which starts on its own
- Secondary myelofibrosis, which develops from another MPN such as polycythaemia vera or essential thrombocythaemia
Who is affected?
Myelofibrosis usually affects older adults. It is uncommon in young people, but it can happen at any age.
Some patients have no symptoms at diagnosis. Others are diagnosed after blood tests show abnormal blood counts, or after they develop symptoms such as tiredness, weight loss or abdominal swelling.
Causes and Risk Factors
Why does it happen?
Myelofibrosis happens when abnormal blood-forming stem cells grow in the bone marrow. These abnormal cells disturb normal blood production and cause scarring in the marrow.
In many patients, gene changes called mutations are found. These are not usually inherited from parents. They usually develop during a person’s lifetime.
Common mutations include:
- JAK2
- CALR
- MPL
These mutations can make blood cells grow in an uncontrolled way.
Are certain people more at risk?
Risk may be higher in people who:
- Are older
- Have another MPN such as polycythaemia vera or essential thrombocythaemia
- Have certain acquired gene mutations
- Have had long-term exposure to some chemicals or radiation, although this is uncommon
Most patients did nothing to cause the disease.
Symptoms
Some people have no symptoms at first.
Common symptoms include:
- Tiredness or weakness
- Shortness of breath
- Pale appearance due to anaemia
- Fever
- Night sweats
- Unexplained weight loss
- Poor appetite
- Itching
- Bone pain
- Easy bruising or bleeding
- Frequent infections
- Abdominal discomfort or fullness
- Feeling full quickly after eating
- Pain or swelling under the left ribs due to an enlarged spleen
Some patients may also have blood clotting problems. Seek urgent medical help if there is sudden chest pain, weakness on one side of the body, slurred speech, sudden vision loss, coughing blood, or a swollen painful leg.
Diagnosis
How is it diagnosed?
Myelofibrosis is diagnosed using blood tests, bone marrow examination, genetic testing and clinical assessment.
Your doctor will look at:
- Symptoms
- Blood counts
- Physical examination, especially spleen size
- Blood film appearance
- Bone marrow findings
- Gene mutation results
What tests are commonly done?
Common tests include:
- Full blood count
Checks haemoglobin, white blood cells and platelets. - Peripheral blood film
Looks at the shape and appearance of blood cells under a microscope. - Bone marrow biopsy
Checks for scarring, abnormal cells and marrow structure. - Mutation testing
Usually includes JAK2, CALR and MPL. Sometimes broader genetic testing is needed. - LDH, uric acid and liver function tests
These help assess disease activity and organ function. - Ultrasound or scan of the abdomen
May be used to measure spleen size. - Risk scoring
Doctors may use scoring systems to estimate disease risk and guide treatment.
Treatment Options
Treatment depends on symptoms, blood counts, spleen size, age, general health, genetic findings and disease risk.
Not every patient needs treatment immediately. Some patients with low-risk disease and no symptoms can be safely monitored.
Main treatment approaches
1. Active monitoring
If the disease is stable and symptoms are mild or absent, your doctor may recommend regular follow-up with:
- Blood tests
- Spleen assessment
- Symptom review
- Monitoring for disease progression
2. Treatment for anaemia
Anaemia is common in myelofibrosis.
Treatment may include:
- Blood transfusions
- Erythropoietin injections in selected patients
- Iron, folate or vitamin B12 replacement if deficient
- Medicines to improve anaemia in suitable cases
- Adjusting other treatments that may worsen anaemia
3. JAK inhibitors
JAK inhibitors are targeted medicines that can reduce spleen size and improve symptoms.
Examples include:
- Ruxolitinib
- Fedratinib
- Pacritinib
- Momelotinib
The choice depends on platelet count, anaemia, symptoms, other medical problems and drug availability. For example, momelotinib may be useful in some patients with anaemia, while pacritinib may be considered in patients with very low platelets.
4. Hydroxyurea
Hydroxyurea may be used when blood counts are high, especially if there are high white blood cells or platelets.
5. Spleen-directed treatment
If the spleen is very enlarged or painful, treatment may include:
- JAK inhibitor therapy
- Other medicines
- Radiotherapy to the spleen in selected cases
- Splenectomy, or spleen removal, rarely and only in carefully selected patients
6. Stem cell transplant
An allogeneic stem cell transplant is the only treatment with potential to cure myelofibrosis. However, it carries significant risks and is not suitable for everyone.
It may be considered for selected patients with higher-risk disease, especially if they are younger and fit enough for transplant.
7. Clinical trials and investigational therapies
Clinical trials may offer access to newer treatments. These may include newer targeted therapies, combination treatments with JAK inhibitors, anti-fibrotic approaches and drugs aimed at improving anaemia or changing disease biology.
Ask your haematologist whether a clinical trial is suitable for you.
Dietary Advice
There is no special diet that can cure myelofibrosis. However, good nutrition can support energy, strength and treatment tolerance.
What to eat
Aim for a balanced diet with:
- Lean protein such as fish, chicken, eggs, tofu, beans or lentils
- Vegetables and fruits
- Whole grains such as oats, brown rice and wholemeal bread
- Healthy fats from nuts, seeds, olive oil and fish
- Enough fluids, especially if you have fever, sweating or high blood counts
If you have anaemia
Discuss with your doctor before taking iron supplements. Anaemia in myelofibrosis is often not due to iron deficiency.
Your doctor may check:
- Iron levels
- Vitamin B12
- Folate
Only take supplements if deficiency is confirmed or your doctor recommends them.
If your spleen is enlarged
Large meals may make you feel full quickly. Try:
- Smaller, more frequent meals
- Protein-rich snacks
- Soft or easy-to-digest foods if appetite is poor
- Avoiding very heavy meals
Food safety
If your white blood cell count is low, or if you are on treatment that affects immunity:
- Avoid raw or undercooked meat, seafood and eggs
- Wash fruits and vegetables well
- Avoid unpasteurised milk or cheese
- Store food safely
- Reheat leftovers properly
Drug-food interactions
Some medicines may interact with grapefruit or certain supplements. Check with your doctor or pharmacist before taking:
- Herbal supplements
- Traditional medicines
- High-dose vitamins
- Grapefruit products
- Over-the-counter medicines
Living with Myelofibrosis
Managing daily activities
Fatigue is common. Practical steps include:
- Plan important tasks for when energy is best
- Take short rests during the day
- Avoid pushing beyond your limits
- Ask for help with heavy tasks
- Keep a symptom diary
Exercise and lifestyle
Light to moderate exercise can help maintain strength and mood.
Suitable options may include:
- Walking
- Gentle cycling
- Stretching
- Light resistance exercise
- Balance exercises
Avoid contact sports if your spleen is enlarged or your platelet count is low.
Emotional well-being
Living with a long-term blood cancer can be stressful. It is normal to feel worried, frustrated or tired.
Helpful steps include:
- Learn about your condition from reliable sources
- Bring a family member to clinic visits
- Write down questions before appointments
- Join patient support groups if available
- Speak to your doctor if anxiety, low mood or sleep problems persist
Long-term monitoring
Regular follow-up is important. Your doctor may monitor:
- Blood counts
- Symptoms
- Spleen size
- Need for transfusion
- Treatment side effects
- Infection risk
- Disease progression
Tell your doctor if symptoms change, even between appointments.
FAQs
1. Is myelofibrosis a cancer?
Yes. Myelofibrosis is a rare type of blood cancer. It usually grows slowly, but its behaviour can vary from person to person.
2. Can myelofibrosis be cured?
A stem cell transplant is the only treatment with potential to cure myelofibrosis. However, it is a complex treatment with significant risks. Many patients are treated with medicines to control symptoms and improve quality of life.
3. Will I need treatment immediately?
Not always. Some patients with mild or no symptoms can be monitored carefully. Treatment is usually started if symptoms, anaemia, spleen enlargement or higher-risk disease features are present.
4. Is myelofibrosis inherited?
Most cases are not directly inherited. The gene mutations found in myelofibrosis usually develop during life. Rarely, some families may have a higher tendency to develop MPNs.
5. Can I live normally with myelofibrosis?
Many patients continue normal daily activities for years, especially with regular monitoring and appropriate treatment. The key is follow-up with a haematologist and early reporting of new symptoms.
When to Contact a Doctor
Contact your doctor if you develop:
- Worsening tiredness or breathlessness
- Fever or signs of infection
- Unexplained weight loss
- Increasing night sweats
- New or worsening abdominal swelling
- Easy bruising or bleeding
- Severe bone pain
- Sudden chest pain
- Weakness on one side of the body
- Slurred speech
- Sudden vision loss
- Swollen painful leg
Seek urgent medical attention for stroke-like symptoms, chest pain, severe shortness of breath or significant bleeding.