Essential Thrombocythemia

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Essential thrombocythemia (ET) is a type of blood cancer known as a myeloproliferative neoplasm. It involves the abnormal development and function of bone marrow cells that produce blood cells, and leads to the overproduction of blood cells known as platelets. Red blood cells and white blood cells may also be overproduced. There is currently no cure for ET, but the condition can often be well managed for long periods of time. In rare cases, ET may progress to myelofibrosis (scarring of the bone marrow) or acute myeloid leukemia (AML).

The following is a general overview of the diagnosis and treatment of ET. Each person with ET is different, and the specific characteristics of your condition will determine how it is managed. The information on this Web site is intended to help educate you about treatment options and to facilitate a shared decision-making process with your treating physician.


Symptoms of Essential Thrombocythemia

Many people with ET do not have symptoms from the disease. Those who do have symptoms may experience the following1:

  • Headache.
  • Burning or tingling in the hands or feet.
  • Redness and warmth of the hands or feet.
  • Vision or hearing problems.

Overproduction of blood cells and changes to blood flow increase the risk of serious blood clots in people with ET. This can lead to life-threatening conditions such as heart attack, stroke, or pulmonary embolism. ET can also lead to abnormal bleeding and to pregnancy complications. Women who are pregnant or considering becoming pregnant may wish to talk with their doctor about how to manage their health.

Diagnosis of Essential Thrombocythemia

Blood tests and (in many cases) bone marrow examination provide the information necessary to diagnosis ET.2 ET involves a high platelet count. Platelets are blood cells that play an important role in blood clotting. In addition, roughly half of people with ET will test positive for a mutation in the Janus kinase 2 (JAK2) gene; the exact role of this gene continues to be studied. Bone marrow examination typically reveals an increase in megakaryocytes (platelet-forming cells) that have a certain, characteristic appearance.

Treatment of Essential Thrombocythemia