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What Is Myelofibrosis?

By

Allie Lemco Toren

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This content is created or selected by the Healthgrades editorial team and is funded by an advertising sponsor. The content is subject to the Healthgrades medical review process for accuracy, balance and objectivity. The content is not edited or otherwise influenced by the advertisers appearing on this page except with the possible suggestion of the broad topic area. For more information, read the HealthGrades advertising policy.

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Treating Rare Blood Disorders

New advances in treatment for myeloproliferative diseases offer hope for people with these rare blood cancers.
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When you think of leukemia, you may think it’s a kind of blood cancer that only affects children. However, leukemia affects adults about 10 times as much as kids. And one type of leukemia, called myelofibrosis (MF), is primarily found in adults older than 50 years old.

Leukemia is the umbrella term used for cancers of the blood. MF is a rare type of leukemia that impacts how your body produces blood cells. In healthy people, stem cells in the bone marrow develop into blood cells. But in people with MF, scar tissue forms in the bone marrow, so it cannot make enough normal blood cells. The liver and spleen try to make some of the blood cells instead, which causes them to swell.

MF affects every patient differently: some people live for many years without developing symptoms, but others experience symptoms sooner and require treatment earlier on. Data shows that patients with MF live an average of five years after they’re diagnosed—but some people may live for decades. Such grim statistics predate the arrival of revolutionary MF therapies. Researchers are making a lot of progress in finding the cause and more effective treatments for this rare disorder.

Cause

Myelofibrosis is actually classified specifically as a myeloproliferative neoplasm (MPN), a term for a group of three progressive blood cancers in which the bone marrow is damaged so blood cell production is impaired. The other MPNs are called essential thrombocythemia (ET), characterized by a high level of platelets in the blood, and polycythemia vera (PV), which involves a high level of red blood cells in the blood. Sometimes, ET and PV can progress into MF—when this occurs, it’s called secondary myelofibrosis.

When MF develops without the presence of another disease, it’s called primary myelofibrosis. Experts don’t know the exact cause, but they believe primary MF may occur when the bone marrow produces abnormal stem cells. These abnormal stem cells grow quickly and take over the bone marrow, which creates scar tissue and inflammation; because of this, the bone marrow cannot create enough normal blood cells.

Researchers don’t know what triggers MF, but we do know that it’s most likely not inherited from family members. Recently, experts discovered that MF might be caused by mutations in specific genes. These breakthroughs have allowed scientists to develop more targeted treatments, so the outlook for people with MF is better than ever.

It’s also possible that MF can develop after someone is exposed to petrochemicals and ionizing radiation, but experts aren’t sure if this is definitely the case.

Symptoms

MF symptoms can vary, and usually patients look fine on the outside. But they may be experiencing difficult symptoms, including:

  • Fatigue, weakness, or shortness of breath after light activity—a result of not having enough blood circulating

  • A feeling of fullness or pain in the abdomen—a result of the spleen swelling up

  • Fever

  • Night sweats

  • Weight loss or malnutrition

  • Itching

  • Easy bleeding or bruising

  • Pain in the bones or joints, which sometimes develops into gout

  • Bloating in the abdomen related to excess fluid retention

  • Problems concentrating

Diagnosis

Every case of MF is different, so physicians must use a variety of tests and exams to make a diagnosis. Your doctor will look at your medical history, do a physical exam, and then order some tests. During the physical exam, your doctor will be looking to see if you have an enlarged spleen, if you’re pale and have anemia (a condition in which you don’t have enough red blood cells circulating), if you’ve lost muscle mass, and if you’ve experienced weight loss or muscle atrophy.

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Medical Reviewers: William C. Lloyd III, MD, FACS Last Review Date: Jun 24, 2016

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View Sources

Medical References

  1. Myelofibrosis. Mayo Clinic. http://www.mayoclinic.org/diseases-conditions/myelofibrosis/basics/definition/con-20027210
  2. What Is Primary Myelofibrosis? MPN Research Foundation. http://www.mpnresearchfoundation.org/Primary-Myelofibrosis
  3. Myelofibrosis. MedlinePlus, U.S. National Library of Medicine. https://www.nlm.nih.gov/medlineplus/ency/article/000531.htm
  4. Primary Myelofibrosis. National Organization for Rare Disorders. http://rarediseases.org/rare-diseases/primary-myelofibrosis/
  5. Primary Myelofibrosis. Medscape. http://emedicine.medscape.com/article/197954-overview
  6. Myelofibrosis: Prognosis. National Organization for Rare Disorders Physician Guides. http://nordphysicianguides.org/myelofibrosis/prognosis/
  7. Leukemia. UCSF Medical Center. https://www.ucsfhealth.org/conditions/leukemia/
  8. Understanding MPNs. MPN Research Foundation. http://www.mpnresearchfoundation.org/Understanding-MPNs

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