Diseases & Conditions


Primary Myelofibrosis

Synonyms of Primary Myelofibrosis
  • Agnogenic Myeloid Metaplasia (AMM)
  • Chronic Idiopathic Myelofibrosis (CIMF)
  • Idiopathic myelofibrosis
  • IM
  • Myelofibrosis and Myeloid Metaplasia
  • Myelofibrosis with Myeloid Metaplasia
  • Primary Myelofibrosis (PMF)

Disorder Subdivisions

    General Discussion
    Primary myelofibrosis is a rare bone marrow disorder that is characterized by abnormalities in blood cell production (hematopoiesis) and scarring (formation of fibrous tissue) within the bone marrow. Bone marrow is the soft, spongy tissue that fills the center of most bones. Bone marrow contains specialized cells called hematopoietic stem cells that grow and eventually develop into one of the three main types of blood cells: red blood cells, white blood cells or platelets. In idiopathic myelofibrosis, a change in the DNA of a single hematopoietic stem cell causes the abnormal cell to continually reproduce itself. Eventually, these abnormal cells crowd out normal, healthy cells in the marrow and, along with scarring within the marrow, disrupt the production of red and white blood cells and platelets.

    The symptoms associated with idiopathic myelofibrosis vary and are related to the abnormalities affecting blood cell production. Affected individuals may not have symptoms at the time of diagnosis (asymptomatic) may remain symptom-free for many years. Eventually, affected individuals may develop fatigue, fever, frequent infections, pale skin, night sweats and unexplained weight loss. An enlarged (spleen) is a common finding. An enlarged liver (hepatomegaly) may also occur.

    Idiopathic myelofibrosis belongs to a group of diseases known as the myeloproliferative disorders (MPDs). This group of disorders is characterized by the overproduction (proliferation) of one or more of the three main blood cell lines ? red or white blood cells or platelets. Three other disorders are commonly classified as MPDs: chronic myeloid leukemia, essential thrombocythemia and polycythemia vera. Myelofibrosis may occur as a secondary characteristic of polycythemia vera or essential thrombocytyemia. Because the MPDs are characterized by uncontrolled cell growth, they may also be classified as blood cancers.

    When the cause of myelofibrosis is unknown it is referred to as idiopathic or primary. In approximately 50 percent of cases, a mutation of the JAK2 gene has been detected. The exact role this abnormal gene plays in the development of the disorder is unknown.

    Organizations related to Primary Myelofibrosis
    • American Cancer Society, Inc.
      1599 Clifton Road NE
      Atlanta GA 30329
      Phone #: 404-320-3333
      800 #: 800-227-2345
      e-mail: N/A
      Home page: http://www.cancer.org
    • CMPD Education Foundation
      PO Box 4758
      Scottsdale AZ 85261
      Phone #: 480-443-1975
      800 #: N/A
      e-mail: [email protected]
      Home page: http://www.mpdinfo.org
    • Center for International Blood and Marrow Transplant Research
      Medical College of Wisconsin
      Milwaukee WI 53226
      Phone #: 414-456-8325
      800 #: --
      e-mail: [email protected]
      Home page: http://www.ibmtr.org;
    • Italian Registry of Myelofibrosis with Myeloid Metaplasia
      Laboratoria Di Informatica Medica
      Pavia Intl 27100
      Phone #: 800- 27-9 656
      800 #: N/A
      e-mail: [email protected]
      Home page: http://www.myelofibrosis.net
    • Leukemia & Lymphoma Society
      1311 Mamaroneck Ave
      White Plains NY 10605
      Phone #: 914-949-5213
      800 #: 800-955-4572
      e-mail: [email protected]
      Home page: http://www.LLS.org
    • Myeloproliferative Disease Support and Free Daily Email Digest
      2011 Flagler Ave.
      Key West FL 33040
      Phone #: 305-295-4444
      800 #: N/A
      e-mail: [email protected] or [email protected]
      Home page: http://www.MPDSUPPORT.ORG
    • Myeloproliferative Mailing List (MPD-SUPPORT-L)
      3706 North Roosevelt Blvd.
      Key West FL 44030
      Phone #: 305-295-4444
      800 #: --
      e-mail: [email protected]
      Home page: http://www.mpdsupport.org
    • National Bone Marrow Transplant Link
      20411 W. 12 Mile Rd
      Southfield MI 48076
      Phone #: 248-358-1886
      800 #: 800-546-5268
      e-mail: [email protected]
      Home page: http://www.nbmtlink.org

    For a Complete Report

    This is an abstract of a report from the National Organization for Rare Disorders, Inc. ? (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html