Thrombocythemia, Essential

National Organization for Rare Disorders, Inc.

Important
It is possible that the main title of the report Thrombocythemia, Essential 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

  • ET
  • essential hemorrhagic thrombocythemia
  • essential thrombocytosis
  • idiopathic thrombocythemia
  • idiopathic thrombocytosis
  • primary thrombocythemia

Disorder Subdivisions

  • None

General Discussion

Essential thrombocythemia (ET) is a rare, chronic disorder characterized by the overproduction of platelets. Platelets (also known as thrombocytes) are specialized blood cells that clump together to form clots to stop bleeding at the site of injury to blood vessels Although the overproduction of platelets is the or characteristic of ET, red blood cells and white blood cells may be overproduced to some degree as well.

Individuals with ET are at risk for the formation of blood clots (thrombosis), which can restrict blood flow to vital organs, and episodes of uncontrolled bleeding (hemorrhaging). Additional symptoms associated with ET include headaches, dizziness, bleeding from the gums or gastrointestinal tract, an enlarged spleen (splenomegaly) and a condition known as erythromelalgia, which is characterized by a reddened or purplish appearance to the skin of the hands and feet sometimes associated with a painful, burning sensation. Approximately two-thirds of individuals with ET do not have symptoms (asymptomatic) when initially diagnosed. In fact, a diagnosis of ET is often made incidentally during a routine examination. Many individuals eventually present with symptoms related to small or large vessel thrombosis or minor bleeding. Presentation with a major bleeding episode is very unusual. The exact, underlying cause of ET is unknown. However, more than half of the people with this disorder have a mutation of the JAK2 gene. The exact role that this gene plays in the development of ET is not fully understood.

Essential thrombocythemia 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. Red blood cells carry oxygen to the body. White blood cells fight infection. Platelets are involved in clotting of the blood in response to injury. Three other disorders are commonly classified as MPDs: chronic myelogenous leukemia, polycythemia vera and idiopathic myelofibrosis. Because the MPDs 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.
1599 Clifton Road NE
Atlanta, GA 30329
USA
Tel: (404)320-3333
Tel: (800)227-2345
TDD: (866)228-4327
Internet: http://www.cancer.org

NIH/National Heart, Lung and Blood Institute Information Center
P.O. Box 30105
Bethesda, MD 20824-0105
Tel: (301)592-8573
Fax: (301)251-1223
Email: nhlbiinfo@rover.nhlbi.nih.gov

Myeloproliferative Mailing List (MPD-SUPPORT-L)
3706 North Roosevelt Blvd.
Key West, FL 44030
USA
Tel: (305)295-4444
Fax: (305)295-3335
Email: lov2laf@bellsouth.net
Internet: http://www.mpdsupport.org

NIH/Hematology Branch, National Heart, Lung and Blood Institute (NHLBI)
10 Center Dr, Building 10-CRC
3-5140, MSC-1202
Bethesda, MD 20892-1202
Tel: (301)402-0764
Fax: (301)402-3088
Email: zamaniw@nhlbi.nih.gov
Internet: http://dir.nhlbi.nih.gov/labs/hb/index.asp?

Platelet Disorder Support Association
133 Rollins Avenue
Suite 5
Rockville, MD 20852
USA
Tel: (301)770-6636
Fax: (301)770-6638
Tel: (877)528-3538
Email: pdsa@pdsa.org
Internet: http://www.pdsa.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
Email: ordr@od.nih.gov
Internet: http://rarediseases.info.nih.gov/Default.aspx

CMPD Education Foundation
233 S. Wacker Drive, Suite 375
Chicago, IL 60606
Tel: (312)683-7243
Fax: (312)332-0840
Email: ian.sweet@homemail.com.au
Internet: http://www.mpdinfo.org

Madisons Foundation
PO Box 241956
Los Angeles, CA 90024
Tel: (310)264-0826
Fax: (310)264-4766
Email: getinfo@madisonsfoundation.org
Internet: http://www.madisonsfoundation.org

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

Myeloproliferative Disorder (MPD) Foundation
233 S. Wacker Drive
Suite 375
Chicago, IL 60606
Tel: (312)683-7243
Fax: (312)332-0840
Email: abrazeau@mpdfoundation.org
Internet: http://www.mpdfoundation.org

For a Complete Report

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

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