Myelofibrosis is a chronic and progressive bone marrow disorder characterized by the replacement of bone marrow with fibrous scar tissue. This disruption affects the body’s ability to adequately produce blood cells.
Most people with myelofibrosis have a mutation or abnormal change in their DNA related to the disease. In particular, mutations in the JAK2, CALR, and MPL genes have been linked to the disorder.
Common Symptoms:
We have blog topics delving into myelofibrosis - such as what it is, its symptoms, how it is treated, and advice for living with the disorder. You can find them below.
Myelofibrosis is a type of chronic leukemia, a cancer that affects the bone marrow, causing it to produce blood cells irregularly. It is part of a group of diseases known as myeloproliferative neoplasms. In myelofibrosis, the marrow is replaced with fibrous (scar) tissue, which leads to a decrease in the production of blood cells, causing symptoms like anemia. This can result in the liver and spleen compensating for the bone marrow's reduced capacity by producing blood cells, which leads to their enlargement.
The exact cause of myelofibrosis is unknown. However, it's often associated with genetic mutations, such as the JAK2, CALR, or MPL mutation, found in the blood-forming cells. These mutations are acquired during one's lifetime (they are not inherited) and can increase the risk of developing the condition. Not everyone with these mutations will develop myelofibrosis, and some people with the disease do not have these mutations.
Symptoms of myelofibrosis can vary widely and may include fatigue, weakness, severe anemia, weight loss, fever, night sweats, bone pain, and an enlarged spleen (splenomegaly) or liver (hepatomegaly). Some individuals may experience fullness or pain in the left upper abdomen due to an enlarged spleen. In some cases, myelofibrosis may be asymptomatic and discovered during routine blood tests.
Diagnosis of myelofibrosis usually involves a physical examination, complete blood count (CBC) to check for anemia and other abnormalities, bone marrow biopsy to examine the characteristics of the bone marrow tissue, and genetic testing for mutations associated with the disease. Imaging tests like ultrasounds or MRIs might be used to assess the size of the spleen or liver.
Treatment for myelofibrosis aims to relieve symptoms, reduce the risk of complications, and improve quality of life. Options may include medication to target specific mutations (e.g., JAK inhibitors), chemotherapy, androgen therapy, immunomodulatory drugs, and blood transfusions to manage anemia. In some cases, a stem cell transplant may offer the potential for a cure, but it comes with significant risks and is usually considered for younger patients or those with severe disease.