Essential thrombocythemia

Essential thrombocythemia is a chronic myeloproliferative neoplasm in which abnormal bone-marrow stem cells produce persistently excessive platelets, raising risks of thrombosis and bleeding.

JAK2 V617F: A mutation that activates JAK–STAT signaling and occurs in several myeloproliferative neoplasms. It is the most common driver mutation in essential thrombocythemia and can increase thrombotic risk.
Thrombocytosis: An abnormally high platelet count in the blood, caused by a clonal marrow disorder or a reactive process. It is the laboratory finding that prompts evaluation for essential thrombocythemia.
Risk stratification in essential thrombocythemia: Classification of patients by estimated risk of thrombosis, commonly using age, prior thrombosis, and mutation status. It helps determine whether preventive drug treatment is warranted.
Thrombosis: Formation of a blood clot within a blood vessel that can obstruct circulation. It is the major preventable complication and a central determinant of treatment intensity.
CALR mutation: A mutation in the calreticulin gene that activates the thrombopoietin receptor pathway in blood-forming cells. It drives many essential thrombocythemia cases, especially those without JAK2 or MPL mutations.
Bone marrow biopsy: A procedure that samples marrow tissue to examine blood-cell production and architecture. Marrow morphology helps establish the diagnosis and distinguish it from other neoplasms.
Low-dose aspirin: An antiplatelet medicine that irreversibly inhibits platelet cyclooxygenase-1 at low doses. It can reduce vasomotor symptoms and thrombotic risk, but may worsen bleeding in selected patients.
Erythromelalgia: Burning pain, redness, and warmth in the extremities, often associated with platelet-mediated small-vessel disturbance. It is a characteristic microvascular symptom that may improve with aspirin.
MPL mutation: A mutation in the thrombopoietin receptor gene that can cause persistent activation of blood-cell production signaling. It is a less common driver of platelet overproduction in essential thrombocythemia.
Complete blood count: A blood test that measures blood-cell numbers and reports related indices. Repeated platelet measurements establish persistent thrombocytosis and reveal accompanying abnormalities.

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HydroxycarbamideRelated: Hydroxycarbamide is used to reduce platelet counts and prevent vascular complications in some patients.