How is Essential Thrombocythemia diagnosed?

See how Essential Thrombocythemia is diagnosed. Which specialists are essential to meet, what tests are needed and other useful information for the diagnosis of Essential Thrombocythemia


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.


by Diseasemaps

If your blood count is above 450,000 platelets per microliter of blood, your doctor will look for an underlying condition. He or she will rule out all other causes of high platelet counts to confirm a diagnosis of essential thrombocythemia. Blood tests may include: Complete blood count. This test determines the number of platelets in your blood. Blood smear. A small amount of your blood is examined under a microscope to view the size and activity of your platelets. Genetic testing. Special tests can determine whether you have chromosomal abnormalities that can cause a high platelet count and whether you have a JAK2, CALR or MPL gene mutation. Other blood tests. Your doctor may check the level of iron in your blood or test for markers of inflammation. Your doctor may also suggest two bone marrow tests: Bone marrow aspiration. Your doctor extracts a small amount of your liquid bone marrow through a needle. The sample is examined under a microscope for abnormal cells. Bone marrow biopsy. Your doctor takes a sample of solid bone marrow tissue through a needle. The sample is examined under a microscope to determine whether your bone marrow has a higher than normal number of the large cells that make platelets (megakaryocytes). Blood Tests Blood tests can exclude other causes of a high platelet count (“reactive”). This often includes tests for iron deficiency and indicators of inflammation as well as other mimicking blood diseases. Bone Marrow Biopsy A bone marrow biopsy may be done to look for classical signs of ET (e.g., an increase in platelet precursors) or to exclude an early phase of MF. Gene Mutation Analysis of Blood Cells Physicians may also test for gene mutations like JAK2 (occurring in approximately 50% of cases), CALR (occurring in 23.5% of cases) or MPL (occurring in up to 5% of cases).

8/11/17 by Steve 2685

Through blood tests and bone marrow biopsy

8/11/17 by Nicky 1000

i had a bit of discomfort in my upper abdomen which is obviously a swollen spleen. i wend for a general check up and turned out i have high platelets! my head gets dizzy and heavy/light a lot of the time and i get pains in my legs

2/7/19 by James 3550

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