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 and liver.
Myelofibrosis is a type of chronic leukemia — a cancer that affects the blood-forming tissues in the body. Myelofibrosis can occur on its own (primary myelofibrosis) or it can occur as a result of another bone marrow disorder (secondary myelofibrosis).
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. But as disruption of normal blood cell production increases, signs and symptoms may include:
When to see a doctor
Myelofibrosis occurs when a genetic mutation occurs in blood stem cells. Blood stem cells have the ability to replicate and divide into the multiple specialized cells that make up your blood — 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 — which causes the anemia characteristic of myelofibrosis — and an overabundance of white blood cells with varying levels of platelets. In people with myelofibrosis, the normally spongy bone marrow becomes scarred.
The gene mutation that occurs in most people affected by myelofibrosis is sometimes referred to as JAK2. Other gene mutations also may be associated with myelofibrosis.
Although the cause of myelofibrosis often isn't known, certain factors are known to increase your risk:
Complications that may result from myelofibrosis include:
Preparing for your appointment
If your primary doctor suspects that you have myelofibrosis — often based on an enlarged spleen and abnormal blood tests — you're likely to be referred to a doctor who specializes in blood disorders (hematologist).
Because appointments can be brief, and because there's often a lot of ground to cover, it's a good idea to be well prepared. Here's some information to help you get ready, and what to expect from your doctor.
What you can do
Your time with your doctor is limited, so preparing a list of questions will help you make the most of your time together. List your questions from most important to least important in case time runs out. For myelofibrosis, some basic questions to ask your doctor include:
In addition to the questions that you've prepared to ask your doctor, don't hesitate to ask questions during your appointment.
What to expect from your doctor
Tests and diagnosis
In people who have no symptoms, a routine medical checkup revealing an enlarged spleen and abnormal blood test results may prompt suspicions of a medical problem. If you come to your doctor because of troublesome symptoms, a physical exam and blood tests are likely the first steps your doctor will take.
To confirm a diagnosis of myelofibrosis, you may have imaging studies of your bones, spleen and liver, and examination of a sample of your bone marrow.
Bone marrow biopsy
In a bone marrow aspiration and biopsy, a doctor or nurse uses a thin needle to remove a small amount of liquid bone marrow, usually from a spot in the back of your hipbone called the posterior iliac ...
Treatments and drugs
Immediate treatment may not be necessary
Treatments for myelofibrosis
Ruxolitinib works by stopping the action of all JAK-related genes in the body, including those found in both healthy and diseased cells. Because healthy cells that contain JAK genes are affected, low levels of platelets and red blood cells can occur. This can cause an increased risk of bleeding and infection. Other side effects include bruising, dizziness and headaches.
Treatments for anemia
Treatments for enlarged spleen
Stem cells transplant
Prior to a stem cell transplant, also called a bone marrow transplant, you receive very high doses of chemotherapy or radiation therapy to destroy your diseased bone marrow. Then you receive infusions of stem cells from a compatible donor. After the procedure, there's a risk that the new stem cells will react against your body's healthy tissues, causing potentially fatal damage (graft-versus-host disease). Other risks include organ or blood vessel damage, cataracts and the development of a different cancer later on.
Doctors are studying a reduced-intensity transplant, also called a nonmyeloablative transplant or minitransplant. Reduced-intensity transplants use lower doses of pre-transplant chemotherapy and radiation. Although reduced-intensity transplantation has side effects, doctors hope that it will one day be a safer option for older adults.
Coping and support
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:
Last Updated: 2011-12-13
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