Myelofibrosis is a rare, chronic bone marrow disorder characterized by the excessive buildup of fibrous tissue in the bone marrow, leading to the disruption of normal blood cell production. It is a type of myeloproliferative neoplasm (MPN) that primarily affects the production of red blood cells, along with white blood cells and platelets.
In myelofibrosis, the fibrosis, or scar tissue, replaces the healthy bone marrow cells, impairing their ability to function properly. This leads to anemia, an insufficient number of red blood cells, causing fatigue, weakness, and shortness of breath. Additionally, the replacement of healthy cells with fibrous tissue disrupts the production of white blood cells, impairing the immune system, and increasing the risk of infections. Platelet production also becomes disrupted, leading to clotting and bleeding problems.
The exact cause of myelofibrosis is not fully understood, though a mutation in the Janus kinase 2 (JAK2) gene is frequently associated with the condition. Other genetic mutations may also contribute to the development of myelofibrosis. It can occur spontaneously or as a progression of other MPNs, particularly polycythemia vera or essential thrombocythemia.
Symptoms of myelofibrosis can vary widely among individuals, but commonly include fatigue, night sweats, weight loss, enlarged spleen, bone pain, easy bruising, and frequent infections. Treatment options aim to alleviate symptoms, manage complications, and improve overall quality of life. They may include medication to reduce the production of blood cells, blood transfusions, targeted therapy, and, in severe cases, bone marrow transplantation.
