Myelofibrosis is a serious bone marrow disorder that disrupts your body's normal production of blood cells. The result is extensive scarring in your bone marrow, leading to severe anemia, weakness, fatigue and often an enlarged spleen.
Myelofibrosis is an uncommon type of chronic leukemia â a cancer that affects the blood-forming tissues in the body. Myelofibrosis belongs to a group of diseases called myeloproliferative disorders.
Many people with myelofibrosis get progressively worse, and some may eventually develop a more serious form of leukemia. Yet it's also possible to have myelofibrosis and live symptom-free for years. Treatment for myelofibrosis, which focuses on relieving symptoms, can involve a variety of options.
Myelofibrosis usually develops slowly. In its very early stages, many people don't experience signs or symptoms.
As disruption of normal blood cell production increases, signs and symptoms may include:
Make an appointment with your doctor if you have any persistent signs and symptoms that worry you.
Myelofibrosis occurs when blood stem cells develop a genetic mutation. Blood stem cells have the ability to replicate and divide into the multiple specialized cells that make up your blood â red blood cells, white blood cells and platelets.
It's not clear what causes the genetic mutation in blood stem cells.
As the mutated blood stem cells replicate and divide, they pass along the mutation to the new cells. As more and more of these mutated cells are created, they begin to have serious effects on blood production.
The end result is usually a lack of red blood cells â which causes the anemia characteristic of myelofibrosis â and an overabundance of white blood cells with varying levels of platelets. In people with myelofibrosis, the normally spongy bone marrow becomes scarred.
Several specific gene mutations have been identified in people with myelofibrosis. The most common is the Janus kinase 2 (JAK2) gene. Knowing whether the JAK2 gene or others are associated with your myelofibrosis helps determine your prognosis and your treatment.
Tests and procedures used to diagnose myelofibrosis include:
Bone marrow examination. Bone marrow biopsy and aspiration can confirm a diagnosis of myelofibrosis.
In a bone marrow biopsy, a needle is used to draw a sample of hardened bone marrow from your hipbone. During the same procedure, another type of needle may be used to withdraw a sample of the liquid portion of your bone marrow. The samples are studied in a laboratory to determine the numbers and types of cells found.
Complications that may result from myelofibrosis include:
Living with myelofibrosis may involve coping with pain, discomfort, uncertainty and the side effects of long-term treatments. The following steps may help ease the challenge and make you feel more comfortable and in charge of your health:
Get support. Take this opportunity to lean on family and friends. It can be tough to talk about your diagnosis, and you'll likely get a range of reactions when you share the news. But talking about your diagnosis and passing along information about your condition can help. So can the offers of help that often result.
You may also benefit from joining a support group, either in your community or on the internet. A support group of people with the same or a similar diagnosis, such as a myeloproliferative disorder or another rare disease, can be a source of useful information, practical tips and encouragement.
Explore ways to cope with the disease. If you have myelofibrosis, you may face frequent blood work and medical appointments and regular bone marrow exams. Some days, you may feel sick even if you don't look sick. And some days, you may just be sick of being sick.
Try to find some activities that help, whether it's yoga, exercise, social outings or adopting a more flexible work schedule. Talk to a counselor, therapist or oncology social worker if you need help dealing with the emotional challenges of this disease.
Although the cause of myelofibrosis often isn't known, certain factors are known to increase your risk: