Myelofibrosis is a bone marrow disorder that leads to a disruption of the body’s ability to produce normal healthy blood cells. A rare form of chronic leukemia, the disease often worsens over time and may cause some patients to develop more serious types of leukemia. Conversely, other people have myelofibrosis and go for years without noticing any symptoms.
Myelofibrosis occurs when a genetic mutation causes damage to a single blood-forming stem cell. As this cell grows and replicates, the mutation is passed on to the new cells. In time, the abnormal cells begin to affect the process of blood cell production and overtake the healthy cells. The key feature distinguishing myelofibrosis from other blood cancers is the overproduction of megakaryocytes, or the platelet-forming cells. Too many platelets are released, creating substantial scar tissue within the bone marrow. The exact reason for the mutation that causes the condition is not known.
Myelofibrosis is slow-progressing disease. While symptoms may not be noticed in the beginning, they will begin to develop as blood cell disruption increases.
Myelofibrosis is the process by which blood stem cells develop genetic mutations. Under normal circumstances, blood stem cells can replicate and divide, forming the specialized cells of our blood: red blood cells, white blood cells, and platelets. When myelofibrosis occurs, mutations are passed on to these new cells, spreading and accumulating the defect, which ultimately affects blood production.
As a result, there’s a decrease in the production of red blood cells, causing the individual to become anemic. There’s also a heavier than normal supply of white blood cells, resulting in scarred bone marrow. Researchers have identified several genetic mutations responsible for myelofibrosis, though the Janus kinase 2 (JAK2) gene is the most common culprit. In determining a course of treatment for myelofibrosis, it’s necessary to know whether JAK2 or another genetic defect is responsible.
Patients who are not experiencing symptoms may not need immediate medical care. A doctor is more likely to recommend regular examinations to monitor the condition, and treatment may not begin unless complications arise.
When therapy is needed, the focus is on relieving the symptoms. Depending on how the disorder is progressing, patients might require blood transfusions, various medications, or androgen therapy. Those with an enlarged spleen may undergo chemotherapy, radiation therapy, or a splenectomy. The only way to cure myelofibrosis is with a stem cell transplant, but there are significant risks associated with the procedure.
In cases where myelofibrosis has been caused via genetic mutations, there is no known way to prevent the onset of the illness. Additionally, the primary onset of myelofibrosis cannot currently be slowed or cured through known treatment methods. While some risk factors, as is the case with individuals over 50, cannot be altered to prevent myelofibrosis, there are other causal factors that may be amended. For instance, avoiding other blood disorders, such as essential thrombocythemia or polycythemia vera, can also reduce the risk of contracting myelofibrosis. The disease has also been linked to exposure to chemicals and radiation. Exposure to industrial chemicals, like toluene and benzene, can increase the chances of contracting myelofibrosis.
Cytoreductive therapy can be used in treating the number of cells present in a legion, while Immunomodulatory has also been an effective treatment. The main concern in managing myelofibrosis is getting anemic symptoms under control. This is usually done with recombinant human erythropoietin or blood transfusions. Where there is an underlying disease causing the myelofibrosis, treatment of the primary disease can have a restorative effect.