Essential thrombocythemia

What is essential thrombocythemia?

Essential thrombocythemia is a malignant disease that falls within the group of chronic myeloproliferative syndromes or myeloproliferative neoplasms. It is characterized by the fact that the stem cells of the bone marrow, which are responsible for making all the blood cells, have a defect that causes them to produce some of the myeloid blood cells in an uncontrolled manner.

What are the symptoms of essential thrombocythemia?

In more than half of the cases, the disease has no symptoms, so it is diagnosed by chance in a routine check-up. When symptoms do occur, they are usually due to circulatory disturbances (ischemia, vascular accidents, pain and redness in the fingers and toes, visual disturbances, instability, syncope), thrombosis or bleeding.

Thrombocythemia is usually asymptomatic, and is usually detected by blood tests or at a check-up with the cardiologist.

Diagnosis of thrombocythemia

This disease is usually asymptomatic and can only be diagnosed by the following blood tests:

  • Blood count
  • Uricemia
  • Ferritin
  • Folic acid
  • Vitamin B12

Or through the following instrumental tests:

  • Electrocardiogram and cardiological consultation
  • Abdominal ultrasound
  • Thoracic X-ray
  • Bone marrow biopsy
  • Bone marrow aspirate
  • Thrombophilia tests
  • Study of genetic mutations typical of essential thrombocythemia.

What are the causes of essential thrombocythemia?

The cause of ET is a mutation of the blood stem cell, which increases the number of platelets. The function of these platelets is to clot the blood in response to injury to a blood vessel in order to minimize or prevent bleeding. When the number of platelets is high, an occlusion of the blood vessels, called thrombosis, can occur.

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What is the treatment of essential thrombocythemia?

Treatment is usually given to patients over 60 years of age, with a family history of thrombosis or bleeding or with a platelet count above 1,500,000. The most commonly used drugs are hydroxyurea (in patients over 60 years of age) and anagrelide or interferon alpha. For patients at high risk of complications or with symptoms related to circulatory disorders, acetylsalicylic acid is administered at very low doses (100mg/day).

Although it is a chronic disease, the survival of patients with this pathology is not different from that of the healthy population. However, the risk of vascular complications must be borne in mind, in particular myelofibrosis, which affects 10% of cases, and acute leukemia, which affects 4%.

Which specialist to contact?

The trusted specialist in the diagnostic process of thrombocytopenia is the hematologist, who will perform all the tests to confirm or not the disease and prescribe the best possible treatment.