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Essential Thrombocythemia

Abstract

You are reading a NORD Rare Disease Report Abstract. NORD’s full collection of reports on over 1200 rare diseases is available to subscribers (click here for details). We are now also offering two full rare disease reports per day to visitors on our Web site.

NORD is very grateful to Kenneth M. Algazy, MD, Clinical Professor of Medicine, University of Pennsylvania School of Medicine, and Chief of Hematology/Oncology, Philadelphia VA Medical Center, for assistance in the preparation of this report.

Synonyms of Essential Thrombocythemia

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

Disorder Subdivisions

  • No subdivisions found.

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.

Organizations related to Essential Thrombocythemia

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