Primary Myelofibrosis

National Organization for Rare Disorders, Inc.

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Important
It is possible that the main title of the report Primary Myelofibrosis is not the name you expected.

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.

Supporting Organizations

American Cancer Society, Inc.

250 Williams NW St
Ste 6000
Atlanta, GA 30303
USA
Tel: (404)320-3333
Tel: (800)227-2345
Website: http://www.cancer.org

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
Website: http://www.cibmtr.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
Website: http://rarediseases.info.nih.gov/GARD/

Italian Registry of Myelofibrosis with Myeloid Metaplasia

Laboratoria Di Informatica Medica
IRCCS Policlinico San Matteo
Pavia, 27100
Italy
Tel: 800279656
Fax: 382503393
Email: marchettim@smatteo.pv.it
Website: http://www.myelofibrosis.net

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
Website: http://www.LLS.org

MPN Education Foundation

P.O. Box 4758
Scottsdale, AZ 85261
Email: ian.sweet@homemail.com.au
Website: http://mpninfo.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
Website: http://www.mpnresearchfoundation.org

Myeloproliferative Disease Support and Daily Email Digest

2011 Flagler Ave.
Key West, FL 33040
USA
Tel: (305)295-4444
Email: roberttollen@gmail.com
Website: http://www.mpdsupport.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
Website: http://www.nbmtlink.org

National Cancer Institute

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

Rare Cancer Alliance

1649 North Pacana Way
Green Valley, AZ 85614
USA
Website: http://www.rare-cancer.org

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders (NORD). For a full-text version of this report, 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.

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.

Last Updated:  3/29/2016
Copyright  2013 National Organization for Rare Disorders, Inc.