Idiopathic myelofibrosis can’t be cured, but the disease is usually managed with medicines. Your doctor may prescribe drugs to lower your blood counts, reduce splenomegaly, and help control symptoms like fatigue. He or she might also give you chemotherapy drugs like hydroxyurea or cladribine.
Most people with myelofibrosis don’t have any symptoms at first. They often find out they have the disorder when they get a routine blood test for something else.
Symptoms
Idiopathic myelofibrosis is a condition in which scar tissue forms in the bone marrow and prevents it from making healthy blood cells. This can cause symptoms including anemia, a low platelet count and inflammation of the liver and spleen (hepatobiliary symptoms). In about 20% of cases, myelofibrosis occurs on its own, but it also can develop as a result of other blood disorders such as primary thrombocytosis or polycythemia vera. It can also occur in people who have been exposed to certain medications or toxins, such as radiation or petrochemicals, like benzene and toluene.
Ignoring symptom symptoms can cause the condition to progress and lead to more serious complications, such as bone pain, bleeding problems and kidney damage. A doctor can prescribe treatments to help relieve the most common symptoms.
The disease can be diagnosed with a physical exam, blood tests and imaging tests such as an X-ray or magnetic resonance imaging (MRI). Blood tests may show that your red blood cell levels are lower than normal, which is common in myelofibrosis. Your white blood cell and platelet counts are usually normal or higher than normal, but a blood sample is needed to make the final diagnosis.
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An enlarged spleen is the hallmark of myelofibrosis and is seen in around two-thirds of cases. In most cases, the spleen is enlarged below the ribs on the left side of the abdomen (splenomegaly). Some people with myelofibrosis have an enlarged liver, which is called hepatomegaly. The most common symptoms associated with the enlarged liver are fatigue, weakness and abdominal fullness (hepatotoxicity).
About one-third of people with myelofibrosis don’t have any symptoms at all when they are first diagnosed. It can take years before the disease causes symptoms.
Some people with myelofibrosis are offered a stem cell transplant. This can be an effective treatment for some patients. Talk to your doctor about clinical trials available at Mayo Clinic to find the right care for you. These studies test new ways to prevent, find and treat diseases. The doctors who run these studies are called cancer specialists (oncologists) or blood specialists (hematologists). They are working to improve the care of people with myelofibrosis and other blood disorders.
Diagnosis
After a physical exam, your doctor will ask about your symptoms. He or she will order blood tests to check your red blood cell levels, platelet count and white blood cells. Your doctor may also order an imaging test to see if you have an enlarged spleen. This test may include an ultrasound or magnetic resonance imaging (MRI).
In idiopathic myelofibrosis, the bone marrow is replaced by fibrous tissue that blocks the production of healthy blood cells. To compensate, your body creates blood cells in organs such as the liver and spleen instead of in the bone marrow (extramedullary hematopoiesis). This process causes anemia. When the disease is in its early stages, your red blood cell count may be low and the morphology of the cells is variable. Teardrop-shaped red blood cells are common in idiopathic myelofibrosis. White blood cell counts may be high or normal. Platelet counts may be higher than normal or lower than normal.
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The cause of idiopathic myelofibrosis isn’t known. But it’s thought to be caused by mutations (changes in DNA) that affect how your cells respond to signals from the immune system. The most common mutations are related to genes involved in signaling pathways that control how your bone marrow makes blood cells.
Idiopathic myelofibrosis and the other forms of myeloproliferative neoplasms are most common in people over 60, but they can occur at any age. Certain diseases and conditions, such as AIDS, can increase your risk of developing myelofibrosis. Exposure to petrochemicals, such as benzene and toluene, and ionizing radiation are also linked to myelofibrosis.
Once you have a diagnosis of myelofibrosis, your doctors can help you manage your condition to reduce the severity of your symptoms and prevent complications. Medications such as Jakafi(r), Inrebic(r) and Vonjo(r) can help improve blood cell levels, relieve an enlarged spleen and improve your quality of life. You can also get support from a family member or friend, or join a myelofibrosis support group online or in your community. A hematologist, a specialist in blood disorders, can also provide support.
Treatment
For most people with primary myelofibrosis, treatment is aimed at relieving symptoms and preventing complications. The goal is to prolong life without progression to a form of leukemia, and many doctors use specialized formulas to assess a person’s prognosis. The formulas take into account factors such as the severity of bone marrow damage, the number and type of mutations, and other medical conditions.
The genetic changes in myelofibrosis affect the proteins that control blood cell formation in your bone marrow (hematopoiesis). When these genes become mutated, too few or too many blood cells are produced. The body may compensate for this change by directing blood cell production to other organs, such as the spleen and liver. This process is called extramedullary hematopoiesis and can lead to an enlarged spleen (splenomegaly) and hepatomegaly. It can also cause fatigue, fever, night sweats, and weight loss. In about 12% of cases, primary myelofibrosis progresses to acute myeloid leukemia, an aggressive form of blood cancer.
Up to 35 in 100 people with myelofibrosis have a mutation in the JAK2 gene. About 8 in 100 have a mutation in the CALR or MPL gene. Some people have no of these gene changes (triple-negative myelofibrosis).
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Most patients with myelofibrosis will not experience any signs or symptoms at first, and the disease will develop slowly over time. Many patients will be diagnosed with the condition after a routine blood test as part of a different health examination.
A bone marrow biopsy and aspiration can confirm the diagnosis of myelofibrosis. During this procedure, a needle is used to extract bone tissue and the liquid portion of your marrow from your hipbone. This is then studied in a laboratory to check for the presence of abnormal blood cells and other features of the disorder.
Some drugs can help relieve the symptoms of myelofibrosis, such as anemia and an enlarged spleen. These include androgens, like danazol, and immunomodulators, such as interferon and thalidomide (Thalomid(r) or Revlimid(r)). Some chemotherapy medications can also be effective for anemia, such as hydroxyurea and cladribine. Regular blood transfusions may be needed to boost your red blood cell count. For some younger people with myelofibrosis, a blood stem cell transplant (HCT) may offer a chance of cure. However, HCT is very hard on the body and is only available to a small percentage of younger patients with myelofibrosis who have a suitable donor.
Prognosis
A small percentage of people with idiopathic myelofibrosis don’t have any symptoms at all (asymptomatic). Symptoms vary and include fatigue, abdominal pain, fever, night sweats, a spleen that is enlarged or fullness of the liver (splenomegaly), anemia, blood clotting problems, repeated infections and bleeding and a general feeling of illness.
Myelofibrosis is a blood disorder in which fibrous tissue forms in the bone marrow, replacing the normal blood-producing cells. This causes anemia, abnormally shaped red blood cells and abnormally low platelet counts. It also leads to the production of blood in organs outside the bone marrow, for example the spleen and liver, leading to these organs becoming enlarged.
It can affect anyone but it’s more common in people over 50, and it tends to run in families. It can be caused by certain gene mutations such as those in the Janus kinase 2 (JAK2) or Calastin gene. It can also be a complication of another blood disorder such as essential thrombocythemia or polycythemia vera. It can also be triggered by exposure to some industrial chemicals.
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Treatment can improve prognosis. Medications including the JAK inhibitors ruxolitinib and fedratinib can reduce the size of the liver or spleen, relieve symptoms and improve quality of life. Stem cell transplantation is a potentially curative treatment for some patients.
Your doctor is the best person to discuss your personal prognosis. Various disease staging and prognostic scoring systems can help estimate the chance of serious complications, needing further treatment or the chance of transformation to acute myeloid leukemia.
Your prognosis depends mainly on whether you have primary myelofibrosis or secondary myelofibrosis. It also depends on the age at which you’re diagnosed, and if you have any identifiable genetic mutations. It can also depend on other symptoms and your response to treatment. It is important to see your doctor regularly and have regular blood tests so they can monitor how you’re responding to treatment. You can help by reporting any changes or unusual symptoms to your doctor as soon as they occur. Getting the right treatment early can prevent more serious complications and delay or limit the progression of myelofibrosis.
