What is Essential Thrombocythemia?

Essential Thrombocythemia (ET) is a rare chronic blood disorder characterized by the overproduction of platelets by megakaryocytes in the bone marrow. In some cases, this disease can be progressive, although it is one of the myeloproliferative disorders, it does not result in acute leukemia. Patients with ET are at risk for blood clotting and bleeding complications, however, with modern treatments, most individuals with the disorder have a normal lifespan.

Types of Essential Thrombocythemia

There are no specific types of essential thrombocythemia. The disease is classified based on the presence or absence of a specific mutation in the Janus kinase 2 (JAK2) gene. Around half of the patients with ET have the JAK2 gene mutation. This mutation is found in other myeloproliferative disorders, which suggests that there is a common pathway in all myeloproliferative disorders development. The presence or absence of this mutation may have implications for the treatment and prognosis of the disease.

Why Do People Get Essential Thrombocythemia?

The cause of essential thrombocythemia is unknown. However, most patients with this condition have mutations in the JAK2, CALR, or MPL genes. These mutations develop over a person's lifetime and are present only in certain cells. This type of genetic change, called a somatic mutation, is not inherited. These mutations lead to the overproduction of platelets, contributing to the signs and symptoms of ET.

There are factors that may increase the risk of developing ET, including age (it's most common in people over 60), gender (women are slightly more at risk than men), and having a history of blood clots. However, in many cases, people with ET have no identifiable risk factors.

Who Gets Essential Thrombocythemia?

According to the National Cancer Institute, there will be an estimated 38 to 57 new cases per 100,000 people of essential thrombocythemia in 2023. 

Want to Learn More About Essential Thrombocythemia?

Keep reading HealthTree for Essential Thrombocythemia's 101 pages!

• How Is Essential Thrombocythemia Diagnosed?
• How Long Will I Live With Essential Thrombocythemia?
• What Are The Signs And Symptoms Of Essential Thrombocythemia?
• How Is Essential Thrombocythemia Staged And Classified?
• What Are Treatments For Essential Thrombocythemia?