This information is provided by the National Institutes of Health (NIH) Genetic and Rare Diseases Information Center (GARD).
Essential thrombocythemia belongs to a group of diseases called myeloproliferative neoplasms, which cause the bone marrow to make too many platelets, white blood cells and/or red blood cells. In essential thrombocythemia, the body produces too many platelets. The signs and symptoms vary from person to person, but most people with essential thrombocythemia do not have any symptoms when the platelet cell count first increases. Signs and symptoms that develop as the disease progresses include:
Other symptoms may include weakness, headaches, or a burning, tingling or prickling sensation in the skin. Some people have episodes of severe pain, redness, and swelling (especially in the hands and feet).
Essential thrombocythemia may be caused by a person acquiring (not inheriting) a somatic mutation in any of several genes, such as the JAK2 gene (most frequently), CALR gene, and rarely, the MPL, THPO, or TET2 gene. The reason why some people acquire mutations that cause the disease is unknown. Treatment may include low-dose aspirin, hydroxyurea, anagrelide, and/or interferon-alpha. Most people with the disease can live long lives. In very rare cases, essential thrombocythemia can transform into either primary myelofibrosis or acute myeloid leukemia.
For more information, visit GARD.