Myelofibrosis is a rare disease that upsets the body’s ability to produce normal blood cells thereby causing the bone marrow to scar. A form of blood cancer, myelofibrosis is classified as a myeloproliferative disorder along with essential thrombocythemia and polycythemia vera. Primary myelofibrosis occurs on its own while secondary myelofibrosis arises as the result of another bone marrow disorder. The disease is usually diagnosed after age 50, and it affects less than 2 out of 100,000 people a year in the United States. A small number of people who are diagnosed with myelofibrosis later develop acute leukemia.

Symptoms of the disease may include:

  • Extreme fatigue and breathlessness
  • Anemia due to a low number of red blood cells
  • Bone pain
  • Easy bruising and bleeding due to a lack of platelets
  • Night sweats
  • Splenomegaly
  • Enlarged liver
  • Petechiae
  • Weight loss
  • Fever
  • Infection due to a lack of white blood cells

Myelofibrosis is caused by a genetic mutation that occurs in the blood stem cells. The cause of this genetic mutation may be unknown or may be due to the JAK2 gene. The mutation triggers the bone marrow to produce aberrant blood cells. Over time, the spongy bone marrow becomes fibrous and the production of normal red blood cells, white blood cells and platelets slows down. Risk factors for myelofibrosis include age, an existing blood disorder or exposure to particular chemicals or radiation.Myelofibrosis is usually suspected after a routine blood test. A diagnosis can be confirmed with a bone marrow biopsy and scans of the spleen and liver. Patients with myelofibrosis may be asymptomatic initially and require no treatment. Typically, a hematologist monitors the patient with regular blood tests.

Treatments for symptomatic patients include:

  • Blood and platelet transfusion
  • Drug therapy
  • Chemotherapy
  • Radiation therapy
  • Splenectomy
  • Bone marrow transplant

Although a bone marrow transplant can be a potential cure, it carries with it a high mortality risk in patients with myelofibrosis. Myelofibrosis is a debilitating disease and usually progresses slowly. Prognosis is dependent on factors such as age, overall health and results of blood tests and bone marrow biopsies.