How is Essential Thrombocythemia diagnosed?

Essential Thrombocythemia (ET) is a rare chronic blood disorder characterized by the overproduction of platelets in the bone marrow. It is important to diagnose ET early to prevent complications such as blood clots, bleeding, and organ damage. The diagnosis of ET involves a combination of medical history evaluation, physical examination, and laboratory tests.

Medical History Evaluation

During the medical history evaluation, the healthcare provider will ask the patient about their symptoms, medical history, and family history of blood disorders. It is crucial to provide detailed information about any symptoms experienced, such as excessive bleeding, blood clots, fatigue, or enlarged spleen.

Physical Examination

A physical examination is performed to assess the patient's overall health and look for any signs of ET. The healthcare provider may examine the patient's skin for bruising or petechiae (tiny red spots), check for an enlarged spleen or liver, and assess the patient's overall appearance and vital signs.

Laboratory Tests

Several laboratory tests are used to diagnose ET and rule out other possible causes of the symptoms. These tests include:

• Complete Blood Count (CBC): This test measures the number of platelets, red blood cells, and white blood cells in the blood. In ET, the platelet count is usually significantly elevated.


• Peripheral Blood Smear: A blood sample is examined under a microscope to evaluate the size, shape, and appearance of the blood cells. In ET, the platelets may appear larger than normal.


• Bone Marrow Biopsy: A small sample of bone marrow is taken from the hipbone or another site and examined under a microscope. This test helps confirm the diagnosis of ET and rule out other bone marrow disorders.


• JAK2 Mutation Test: The JAK2 gene mutation is present in the majority of ET cases. This genetic test detects the mutation in the patient's blood or bone marrow sample.


• Additional Tests: Other tests may be performed to assess the patient's overall health, including liver and kidney function tests, genetic tests for other mutations, and clotting factor tests.

Consultation with a Hematologist

Once the initial tests are completed, the patient is usually referred to a hematologist, a specialist in blood disorders. The hematologist will review the test results, evaluate the patient's symptoms, and make a definitive diagnosis of ET. They will also develop an appropriate treatment plan based on the patient's individual needs.

It is important to note that the diagnosis of ET requires the exclusion of other potential causes of thrombocytosis (elevated platelet count). The healthcare provider will consider other conditions such as reactive thrombocytosis, myelodysplastic syndromes, and other myeloproliferative neoplasms before confirming the diagnosis of ET.