Essential Thrombocythaemia (ET)

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This blog is for informational purposes only and should not be taken as medical advice. Content is sourced from third parties, and we do not guarantee accuracy or accept any liability for its use. Always consult a qualified healthcare professional for medical guidance.

What is Essential Thrombocythaemia (ET)?

Essential Thrombocythaemia (ET) is a myeloproliferative neoplasm (MPN) where the bone marrow produces too many platelets, increasing thrombosis risk. It’s chronic, often indolent, with JAK2 (50-60%), CALR (20-30%), or MPL (5-10%) mutations. In 2025, ~2-3 per 100,000 incidence, median age 60, more in women.

Symptoms

Many are asymptomatic, diagnosed via blood tests. Symptoms include headaches, dizziness, visual changes, burning pain in hands/feet (erythromelalgia), bruising, bleeding (gums, nose), or thrombosis (strokes, heart attacks). Splenomegaly occurs in 10-20%. In 2025, symptoms prompt MPN evaluation.

Causes

ET results from stem cell mutations (JAK2 V617F most common), causing platelet overproduction. Risk factors include age (>60), female gender, and family history (rare). No environmental links confirmed. In 2025, clonal hematopoiesis is a precursor.

Diagnosis

Diagnosis uses CBC showing thrombocytosis (>450,000/µL), bone marrow biopsy for megakaryocyte hyperplasia, and molecular testing for JAK2/CALR/MPL. Exclude reactive causes. In 2025, NGS detects mutations in 90%.

Treatment

Low-risk ET uses low-dose aspirin for thrombosis prevention. High-risk (age >60, history of thrombosis) adds hydroxyurea or interferon-alpha. Anagrelide for platelet control. In 2025, ruxolitinib for resistant cases.

Future Outlook

In 2025, median survival is 18-20 years, near normal for low-risk. Thrombosis is main complication. Research on JAK inhibitors could prevent progression to MF (5-10%). By 2030, targeted therapies may make ET curable.

Sources

The information for ET is sourced from MPN Research Foundation’s “Essential thrombocythemia (ET)” for symptoms; UpToDate’s “Essential thrombocythemia: Treatment and prognosis” for treatment; PubMed’s “Essential thrombocythemia: 2024 update” for 2025 updates; YouTube’s “What’s new in essential thrombocythemia in 2025?” for updates; Leukaemia Foundation’s “Essential Thrombocythaemia (ET)” for prognosis; NCBI’s “Essential Thrombocytosis” for survival; Wiley’s “Essential thrombocythemia: 2024 update” for diagnosis; Healthtree’s “How is Essential Thrombocythemia Staged and Classified?” for classification; YouTube’s “Essential thrombocythaemia (ET): Diagnosis, treatments and follow-up care” for care; Blood Cancer UK’s “Essential thrombocythaemia (ET)” for overview.