Thrombocythemia

Overview

Though essential thrombocythemia (ET) is uncommon, it is often treated at Mayo Clinic. Mayo Clinic has a longstanding interest in the science and treatment of ET. Mayo has one of the largest ET practices in the world, having evaluated more than 2,000 patients.

Mayo Clinic has pioneered the development of innovative drugs to treat symptoms of this condition. Mayo was instrumental in getting the drug anagrelide approved for treatment of patients with the disease. The physicians who specialize in treating essential thrombocythemia do research and publish papers about the disorder and host a biannual conference on myeloproliferative disorders, of which ET is one. Mayo Clinic is conducting several clinical trials, accessible only at Mayo, of medications for the advanced stages of ET.

Diagnosis

Essential thrombocythemia is characterized by an elevated platelet count. The diagnosis of the disease is made by excluding other causes for the elevated platelet count, which include inflammation due to an autoimmune disorder or infection, severe iron deficiency, or removal of the spleen. In addition to laboratory studies, a bone marrow biopsy may be performed to diagnose ET. Read more about diagnosis of essential thrombocythemia.

Treatment Options

Essential thrombocythemia is not curable and treatment cannot prevent it from progressing to a more severe stage. However, reducing the number of platelets can help some patients who develop symptoms. Read more about treatment options for essential thrombocythemia.

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About Essential Thrombocythemia

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Essential thrombocythemia is a stem cell disease; "essential" means that the cause is unknown. Blood cells, including red blood cells (which carry oxygen from the lungs to the rest of the body), white blood cells (which fight infections) and platelets (which form blood clots) are produced from stem cells in the bone marrow. The stem cells grow and divide into intermediate cells and finally into mature cells in the blood. A problem with the stem cell can lead to problems with all other cells. ET is a stem cell disease that leads to an overproduction of platelets (thrombocytes) without other secondary causes, sometimes with an accompanying increase in white blood cells.

Blood platelets help prevent and control bleeding resulting from injury to blood vessels. The term thrombocythemia refers to an unusually high platelet count. A normal count ranges from 150,000 to 450,000 platelets per microliter (mL) of blood. When the platelet count exceeds 600,000 platelets per mL, doctors call this essential thrombocythemia. Most young people with essential thrombocythemia have no signs or symptoms.

ET is classified as a chronic myeloproliferative disorder (CMPD). The CMPDs also include polycythemia vera, agnogenic myeloid metaplasia with myelofibrosis, and chronic myelogenous leukemia.