15672 Myelofibrosis

Overview

Myelofibrosis is a rare type of bone marrow disorder. It happens when your bone marrow — the soft, spongy tissue inside your bones that makes blood cells — becomes filled with scar tissue. This makes it harder for your body to make healthy blood cells. As a result, the body tries to make blood cells in other places, like the spleen and liver, which can cause them to become enlarged. Myelofibrosis is a chronic condition that usually develops slowly, and while it can be serious, treatments are available to help manage symptoms and improve quality of life.

No. Myelofibrosis is rare. Only about 1 to 2 people per 100,000 are diagnosed each year. Many general practice doctors will care for very few — or even no — patients with this condition during their entire career.

Myelofibrosis most often affects older adults, especially people over the age of 50. It can occur in younger adults and, very rarely, in children. Men and women are affected at about the same rate.

Symptoms

Common symptoms

• Persistent tiredness or weakness
• Shortness of breath, especially with activity
• Pale skin (pallor) from anemia
• Pain or fullness in the left upper belly, due to an enlarged spleen
• Feeling full quickly when eating, even after small meals
• Easy bruising or bleeding
• Frequent infections
• Fever, night sweats, and unintentional weight loss
• Bone or joint pain

Symptoms in children

• Myelofibrosis is extremely rare in children. When it does occur, children may experience unusual tiredness, fever, repeated infections, easy bruising, and an enlarged spleen causing belly discomfort.

Symptoms in older adults

• In older adults, symptoms like fatigue, weakness, and shortness of breath may be mistaken for normal aging or other health conditions. An enlarged spleen can cause a feeling of fullness or pain in the belly. Always mention persistent symptoms to your doctor.

Causes

Main causes

• Myelofibrosis begins when a change (mutation) occurs in a bone marrow stem cell. This mutation is typically acquired during a person's lifetime, not passed down from parents. The changed cells multiply and release substances that trigger the buildup of scar tissue in the bone marrow.

Risk factors

• Being over age 50
• Having another blood disorder, such as essential thrombocythemia or polycythemia vera (these can sometimes progress to myelofibrosis)
• Exposure to very high levels of radiation
• Exposure to certain industrial chemicals, such as benzene and toluene, though these are uncommon causes
• Being male (slightly more likely, though both sexes are affected)
• In rare cases, a family history of myeloproliferative disorders may increase risk

When to see a doctor

See a doctor urgently if:

• If you have symptoms such as persistent fatigue, unexplained weight loss, fever, night sweats, or a feeling of fullness in your left belly, contact your doctor promptly.
• If you have bleeding that doesn't stop, high fever, severe abdominal pain, or sudden weakness, seek care the same day.

Book a routine appointment if:

• Make a routine appointment if you have mild symptoms like tiredness or occasional shortness of breath that are new, persistent, or affecting your daily life.
• If you have an unrelated health issue and a blood test shows abnormal blood counts, your doctor will discuss next steps.

Diagnosis

To diagnose myelofibrosis, a doctor will take a detailed medical history and do a physical exam. They will feel for an enlarged spleen and look for signs of anemia or bleeding. A blood test and a bone marrow biopsy are usually needed to confirm the diagnosis.

Tests that may be done

• Complete blood count (CBC) — measures red blood cells, white blood cells, and platelets.
• Blood smear — looks at the shape and size of blood cells under a microscope.
• Bone marrow biopsy — a small sample of bone marrow is taken with a needle and examined for scar tissue and abnormal cells.
• Genetic testing — checks for mutations in genes like JAK2, CALR, or MPL that are common in myelofibrosis.
• Imaging tests (ultrasound or CT scan) — these can show whether the spleen or liver is enlarged.

What to expect at your appointment

A diagnosis process may take time. You may see a hematologist — a doctor who specializes in blood disorders. The bone marrow biopsy can be uncomfortable but is usually done with numbing medicine. Test results may take a week or two. It is normal to feel anxious while waiting, so ask your healthcare team for support.

Treatment

Treatment for myelofibrosis focuses on reducing symptoms, managing complications, and improving quality of life. It is not the same for everyone. The plan depends on your age, overall health, blood counts, and how the condition affects you. Some people may not need treatment right away and are monitored regularly.

Self-care at home

• Keep all doctor appointments and get regular blood tests to monitor your condition.
• Protect yourself from infections by washing hands often and avoiding contact with people who are sick.
• Rest when you need to and pace yourself during daily activities.
• Ask for help with tasks when fatigue is severe.
• Avoid activities that may cause bruising or bleeding, especially if your platelet count is low.

Medical treatments

There are several types of treatment approaches, but no specific drugs or doses are mentioned here. Medicines may be used to control blood cell counts, reduce spleen size, or relieve symptoms such as fatigue and itching. Blood transfusions can help for anemia. Targeted therapies and other medications, which work on specific changes in your cells, may also be offered. In some cases, chemotherapy is used. The only treatment that may cure the condition is a stem cell (bone marrow) transplant, which is a major procedure and is only considered for certain patients. Your healthcare team will explain the options and what is right for you.

When is surgery considered?

Surgery is rarely the main treatment for myelofibrosis. In some cases, if the spleen becomes extremely large and causes severe pain, pressure, or dangerous low blood counts, doctors may recommend removing it. This operation is called a splenectomy. It is considered only after other treatments have not worked or are not suitable.

Living with this condition

Living with myelofibrosis involves learning to manage fatigue, monitor symptoms, and work with your healthcare team. Some days may feel harder than others. Keep a record of your symptoms to share with your doctor. Adjust your routine to match your energy levels, and plan rest breaks for activities that tire you out.

Lifestyle tips

• Stay active with light activities like walking, yoga, or stretching, as your energy allows.
• Get enough sleep and practice good sleep habits.
• Avoid alcohol and tobacco, as these can make symptoms worse.
• Stay hydrated and eat balanced meals.
• Use a pill planner to help you remember to take any prescribed medicines.
• Seek emotional support from friends, family, or a counselor.

Diet and exercise

Eating a balanced diet with plenty of fruits, vegetables, whole grains, and lean protein can help you stay stronger. If you have a swollen spleen, eating smaller, more frequent meals may be more comfortable. Exercise is important, but keep it gentle — for example, walking or swimming. Talk to your healthcare team about what level of activity is safe for you.

Mental health and emotional wellbeing

A diagnosis of myelofibrosis can be stressful and may lead to feelings of fear, worry, or sadness. It is completely normal to feel this way. Tell your healthcare team if you are struggling emotionally. They can refer you to counseling or support services. Remember, you do not have to go through this alone.

Prevention

There is no known way to prevent myelofibrosis, because the genetic changes that cause it are usually not inherited and are not linked to a specific lifestyle factor. You can lower your risk by avoiding exposure to radiation and industrial chemicals where possible, but most cases have no clear cause.

Vaccines

It is important to keep your vaccinations up to date. Myelofibrosis can lower your blood cell counts, and some treatments may weaken your immune system. Vaccines for flu, COVID-19, pneumonia, and other preventable diseases can help protect you. Talk to your doctor or pharmacist about which vaccines you need.

Screening programmes

There is no routine screening test for myelofibrosis in people without symptoms. It is usually found when a person sees a doctor for symptoms, or when a blood test done for another reason shows abnormal results.

Complications

If left untreated

• Worsening anemia that can cause severe tiredness, weakness, and shortness of breath
• Increased risk of bleeding and bruising due to low platelets
• Frequent infections due to low white blood cell counts
• Progressive enlargement of the spleen, causing pain and stomach problems
• High blood pressure in the vein that drains the liver (portal hypertension)
• Development of acute leukemia in a small number of people

Long-term outlook

The outlook for myelofibrosis is different for everyone. Some people live with the condition for many years without major problems, while others have more challenges. Treatments are continually improving and can help control symptoms, reduce complications, and improve quality of life. Even though myelofibrosis is a serious condition, many people receiving care remain active and have a good quality of life. Your healthcare team will work with you to create the best plan for your situation.

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