Skip to content

    Brain & Nervous System Health Center

    Font Size
    A
    A
    A

    Primary Myelofibrosis

    Important
    It is possible that the main title of the report Primary Myelofibrosis is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.

    Synonyms

    • IM
    • PMF
    • agnogenic myeloid metaplasia (AMM)
    • chronic idiopathic myelofibrosis (CIMF)
    • myelofibrosis with myeloid metaplasia
    • idiopathic myelofibrosis

    Disorder Subdivisions

    • None

    General Discussion

    Summary
    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 primary 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 primary 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.

    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.

    Introduction
    Primary myelofibrosis belongs to a group of diseases known as the myeloproliferative neoplasms (MPNs). 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 MPNs: chronic myeloid leukemia, essential thrombocythemia and polycythemia vera. Myelofibrosis may occur as a secondary characteristic of polycythemia vera or essential thrombocytyemia. Because the MPNs are characterized by uncontrolled cell growth, they may also be classified as blood cancers.

    Resources

    Leukemia & Lymphoma Society
    1311 Mamaroneck Avenue
    Suite 310
    White Plains, NY 10605
    Tel: (914)949-5213
    Fax: (914)949-6691
    Tel: (800)955-4572
    Email: infocenter@LLS.org
    Internet: http://www.LLS.org

    American Cancer Society, Inc.
    250 Williams NW St
    Ste 6000
    Atlanta, GA 30303
    USA
    Tel: (404)320-3333
    Tel: (800)227-2345
    TDD: (866)228-4327
    Internet: http://www.cancer.org

    National Cancer Institute
    6116 Executive Blvd Suite 300
    Bethesda, MD 20892-8322
    USA
    Tel: (301)435-3848
    Tel: (800)422-6237
    TDD: (800)332-8615
    Email: cancergovstaff@mail.nih.gov
    Internet: http://www.cancer.gov

    Center for International Blood and Marrow Transplant Research
    Froedtert and the Medical College of Wisconsin Clinical Cancer Center
    9200 W. Wisconsin Avenue
    Milwaukee, WI 53226
    Tel: (414)805-0700
    Fax: (414)805-0714
    Email: contactus@cibmtr.org
    Internet: http://www.cibmtr.org/

    National Bone Marrow Transplant Link
    20411 W. 12 Mile Rd
    Suite 108
    Southfield, MI 48076
    Tel: (248)358-1886
    Fax: (248)358-1889
    Tel: (800)546-5268
    Email: info@nbmtlink.org
    Internet: http://www.nbmtlink.org

    Italian Registry of Myelofibrosis with Myeloid Metaplasia
    Laboratoria Di Informatica Medica
    IRCCS Policlinico San Matteo
    Viale Golgi 19
    Pavia, 27100
    Italy
    Tel: 800279656
    Fax: 0382503393
    Email: marchettim@smatteo.pv.it
    Internet: http://www.myelofibrosis.net

    Rare Cancer Alliance
    1649 North Pacana Way
    Green Valley, AZ 85614
    USA
    Internet: http://www.rare-cancer.org

    Genetic and Rare Diseases (GARD) Information Center
    PO Box 8126
    Gaithersburg, MD 20898-8126
    Tel: (301)251-4925
    Fax: (301)251-4911
    Tel: (888)205-2311
    TDD: (888)205-3223
    Internet: http://rarediseases.info.nih.gov/GARD/

    CMPD Education Foundation
    P.O. Box 4758
    Scottsdale, AZ 85261
    Email: ian.sweet@homemail.com.au
    Internet: http://www.mpdinfo.org/CMPD_foundation.html

    Myeloproliferative Disease Support and Daily Email Digest
    2011 Flagler Ave.
    Key West, FL 33040
    USA
    Tel: (305)295-4444
    Email: roberttollen@gmail.com
    Internet: http://www.mpdsupport.org/

    MPN Research Foundation
    180 N. Michigan Avenue, Suite 1870
    Chicago, IL 60601
    Tel: (312)683-7249
    Fax: (312)332-0840
    Email: mwoerhle@MPNResearchFoundation.org
    Internet: http://www.mpnresearchfoundation.org

    For a Complete Report:

    This is an abstract of a report from the National Organization for Rare Disorders (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".

    The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.

    It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report

    This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.

    For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email orphan@rarediseases.org

    Last Updated: 5/8/2013
    Copyright 1986, 1987, 1988, 1989, 1996, 2000, 2002, 2008, 2011, 2013 National Organization for Rare Disorders, Inc.

    WebMD Medical Reference from the National Organization for Rare Disorders

    Last Updated: May 28, 2015
    This information is not intended to replace the advice of a doctor. Healthwise disclaims any liability for the decisions you make based on this information.

    Today on WebMD

    nerve damage
    Learn how this disease affects the nervous system.
    senior woman with lost expression
    Know the early warning signs.
     
    woman in art gallery
    Tips to stay smart, sharp, and focused.
    medical marijuana plant
    What is it used for?
     
    senior man
    Article
    boy hits soccer ball with head
    Slideshow
     
    red and white swirl
    Article
    marijuana plant
    ARTICLE
     
    brain illustration stroke
    Slideshow
    nerve damage
    Slideshow
     
    Alzheimers Overview
    Slideshow
    Graphic of number filled head and dna double helix
    Quiz