Essential thrombocythemia

Diagnosis

Healthcare providers conduct a physical examination to diagnose this condition. They may inquire about your symptoms and inquire about any family members experiencing similar issues. Typically, they request the following tests:

• Physical examination: Healthcare provider will inquire about the signs and symptoms as well as whether any relatives are dealing with the same condition. Healthcare provider might listen to the patient’s heart and lungs, check the patient’s body for disease symptoms, and check other body organs during the physical examination.
• Complete blood count (CBC): A sample of blood is tested to determine the quantity of platelets, white blood cells, and red blood cells. Additionally, it calculates the hematocrit—the proportion of red blood cells in whole blood—and the amount of hemoglobin, the substance that carries oxygen in the blood. Platelet counts are higher than the normal in Essential thrombocythemia patients.
• Peripheral blood smear: The size, shape, or appearance of the blood cells are examined under a microscope by a pathologist to check for any odd changes. Additionally, immature (blast cell) presence is checked during the test. The platelets may seem swollen and/or clumped together in this condition.
• Blood chemistry profile: This blood test calculates the amounts of specific chemicals that the body’s organs and tissues produce into the blood. Electrolytes (such as sodium, potassium, and chloride), lipids, proteins, glucose (blood sugar), uric acid, and enzymes are some of these compounds. Even though this test isn’t used to determine the condition, if the findings reveal that there’s an excessive amount of a certain component in the blood that could be an indication of an illness or other health issue.
• Bone marrow tests: In order to accurately assess the bone marrow, providers may do bone marrow aspiration (by extracting a liquid sample of the bone marrow) or bone marrow biopsy (by removing a tiny portion of bone filled with marrow).
• Molecular testing: These procedures, which include DNA sequencing and polymerase chain reaction (PCR), check for abnormal alterations in the patient’s cancer cells’ genes, chromosomes, proteins, or other substances. They are employed in the diagnosis and planning of care.  Healthcare providers check for mutations in the JAK2, MPL, and CALR genes in cases where the condition is suspected.
• Genetic testing: Blood can be analyzed by healthcare providers to check for gene changes that might affect platelet production.

Treatment

Medicines that stop blood clots from forming and/or reduce platelet counts may be used by healthcare providers to treat essential thrombocythemia. Medications consist of:

• Aspirin: Aspirin is known to be effective in preventing blood clots, and your healthcare provider may suggest its use to lower your risk of developing clots. However, individuals with significantly elevated platelet counts should consult their healthcare providers before taking aspirin. If you have a very high platelet count, your provider may conduct tests to rule out the possibility of acquired Von Willebrand syndrome, a condition that increases the likelihood of excessive bleeding.
• Hydroxyurea: Hydroxyurea is a chemotherapy medication commonly used to reduce platelet levels. When there is a high risk of blood clots, healthcare providers may recommend a combination of aspirin and hydroxyurea. This approach helps to address the clotting risk effectively.
• Anagrelide: Anagrelide, like hydroxyurea, reduces platelet counts and lowers the risk of heart attack and stroke.
• Interferon alfa: A type of immunotherapy called interferon alfa prevents abnormal platelets from dividing and proliferating.
• Busulfan: Busulfan is a chemotherapeutic drug that decreases platelet counts and benefits those who cannot or should not take hydroxyurea.
• Ruxolitinib: Ruxolitinib is a medicine that helps patients with symptoms like itching, feeling full even when they don’t consume much food, and weariness who don’t seem to improve from treatment with hydroxyurea, busulfan, and interferon alfa.

If an individual has exceptionally elevated platelet levels, healthcare professionals may suggest undergoing plateletpheresis as an immediate measure to reduce platelet counts. Plateletpheresis involves the use of a specialized machine to extract a portion of platelets from the patient’s bloodstream.