Essential thrombocytopenia

Essential Thrombocytopenia (ET) is a rare chronic disease characterized by the overproduction of platelets by megakaryocytes in the bone marrow. It is one of the myeloproliferative neoplasms, which also include polycythemia vera and primary myelofibrosis.

Etiology

The exact cause of essential thrombocytopenia is unknown. However, it is believed to be a result of mutations in the JAK2, CALR, or MPL genes. These mutations lead to the overproduction of platelets.

Symptoms

Many people with essential thrombocytopenia do not have any symptoms. However, possible symptoms can include headache, dizziness, chest pain, weakness, and bleeding or bruising easily. In severe cases, it can lead to thrombosis or hemorrhage.

Diagnosis

Diagnosis of essential thrombocytopenia is often made by ruling out other conditions that can cause high platelet counts, such as infection, inflammation, cancer, and other myeloproliferative neoplasms. Blood tests, bone marrow tests, and genetic tests may be used in the diagnostic process.

Treatment

Treatment for essential thrombocytopenia is typically aimed at reducing the risk of thrombosis and hemorrhage. This may involve the use of medications such as hydroxyurea, anagrelide, and interferon alpha. In some cases, plateletpheresis may be used to rapidly decrease platelet counts.

Prognosis

The prognosis for individuals with essential thrombocytopenia varies. Some people may live with the condition for many years without experiencing any serious complications. However, there is a risk of progression to myelofibrosis or acute myeloid leukemia.

See also

• Thrombocytosis
• Myeloproliferative neoplasm
• Platelet