Myelofibrosis is a rare, chronic bone marrow disorder characterized by the buildup of scar tissue, impairing normal blood cell production. This progressive...
Myelofibrosis is a chronic blood cancer where scar tissue replaces normal bone marrow, disrupting the production of healthy blood cells. This leads to low red blood cells (anemia), elevated white blood cells or platelets, and often an enlarged spleen.
While the exact cause is often unknown, it typically results from genetic mutations in bone marrow stem cells, commonly involving the JAK2, CALR, or MPL genes, which regulate blood cell production. It can be primary or secondary to other myeloproliferative neoplasms.
Common symptoms include fatigue, shortness of breath, night sweats, unintentional weight loss, fever, bone pain, and an enlarged spleen (splenomegaly) causing abdominal discomfort or early fullness.
Diagnosis involves a physical exam, a complete blood count (CBC), bone marrow biopsy to examine the marrow, and genetic testing for specific mutations (e.g., JAK2, CALR). Imaging tests may also assess spleen size.
Treatments aim to manage symptoms and slow disease progression. Options include watchful waiting, medications (such as JAK inhibitors like ruxolitinib), blood transfusions for anemia, splenectomy, and in some cases, allogeneic stem cell transplantation (the only potential cure).