Essential Thrombocythemia (ET)
ET is a chronic myeloproliferative neoplasm. Most cases are related to mutations that affect the JAK-STAT signaling pathway, resulting in excessive platelet production.
When present, symptoms and complications can include:
• "Vasomotor" symptoms — Headache, visual disturbances, lightheadedness, atypical chest pain, erythromelalgia
• Thrombosis (e.g. MI, stroke, DVT/PE, first trimester pregnancy loss)
On the CBC, RBCs & WBCs are usually near-normal, and aside from thrombocytosis, only other commonly present abnormality is platelet anisocytosis (i.e. widely varying platelet sizes)
A conclusive diagnosis generally requires all of the following:
• Platelet count > ~450,000/microL
• Bone marrow biopsy showing proliferation of the megakaryocyte lineage
• Demonstration of an ET-associated mutation (e.g. JAK2, CALR-calreticulin gene, or MPL-thrombopoietin receptor gene)
• Absence of a concurrent hemoproliferative disorder associated with thrombocytosis (e.g. PV, MDS, CML)
• Currently available treatments for ET are not curative, and do not prevent transformation into MDS or AML.
• Treatment is for the reduction of symptoms and prevention of thrombosis.
• Treatment algorithms are complicated and evolving, but very general options include:
- Close observation (appropriate only for low risk patients with no CV risk factors)
- Hydroxyurea + aspirin
- Hydroxyurea + anticoagulation +/- aspirin (if history of venous thrombosis)
- Dr. Eric Strong @DrEricStrong - Strong Medicine https://www.youtube.com/c/EricsMedicalLectures/
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