Essential Thrombocythemia (ET)
ET is a chronic myeloproliferative ...
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Description

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)

 • Hemorrhage

 • Splenomegaly

Diagnosis: 

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)

Treatment:

 • 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)

    - Aspirin

    - 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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Contributed by

Dr. Gerald Diaz
@GeraldMD
Board Certified Internal Medicine Hospitalist, GrepMed Editor in Chief 🇵🇭 🇺🇸 - Sign up for an account to like, bookmark and upload images to contribute to our community platform. Follow us on IG:  https://www.instagram.com/grepmed/ | Twitter: https://twitter.com/grepmeded/
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