National Organization for Rare Disorders, Inc.
It is possible that the main title of the report Essential Thrombocythemia 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.
- essential hemorrhagic thrombocythemia
- essential thrombocytosis
- idiopathic thrombocythemia
- idiopathic thrombocytosis
- primary thrombocythemia
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.
Leukemia & Lymphoma Society
1311 Mamaroneck Avenue
White Plains, NY 10605
American Cancer Society, Inc.
250 Williams NW St
Atlanta, GA 30303
NIH/National Heart, Lung and Blood Institute
P.O. Box 30105
Bethesda, MD 20892-0105
NIH/National Heart, Lung and Blood Institute ~ Hematology Branch
10 Center Dr, Building 10-CRC
Bethesda, MD 20892-1202
Platelet Disorder Support Association
133 Rollins Avenue, Suite 5
Rockville, MD 20852
Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
CMPD Education Foundation
P.O. Box 4758
Scottsdale, AZ 85261
PO Box 241956
Los Angeles, CA 90024
Myeloproliferative Disease Support and Daily Email Digest
2011 Flagler Ave.
Key West, FL 33040
MPN Research Foundation
180 N. Michigan Avenue, Suite 1870
Chicago, IL 60601
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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
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Last Updated: 1/3/2012
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