Essential thrombocytosis

Essential thrombocytosis
Updated: 02/05/2024
© Jun Wang, MD, PhD

General features
  • Neoplastic proliferation of megakaryocytes
  • Older population
Clinical presentations
  • Headache, most common neurologic symptom
  • Presentations associated with microvascular occlusion: Digital pain, gangrene, etc
  • Thrombotic or hemorrhagic episodes or both
  • Pain relieved by aspirin
  • Splenomegaly
Key pathogenesis
  • Sustained proliferation of megakaryocytes
Key Laboratory findings
  • Persistent thrombocytosis > 450k/ml
  • No significant increase of red blood cells
Key morphological features
Genetic abnormalities
  • Activating mutation of JAK2 or MPL (Thrombopoietin Receptor)
Differential diagnosis
  • Other myeloproliferative neoplasms
  • Polycythemia vera: Increase in erythroid / granulocytic population
  • Prefibrotic stage of primary myelofibrosis: Granulocytic proliferation with bizarre or dysplastic megakaryocytes  
  • Reactive thrombocythemia: History of inflammatory disorders, asplenism, infection, connective tissue disorders, metastatic cancer, lymphoproliferative disorders and iron deficiency, NO JAK2 or c-Mpl mutations

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