Polycythaemia Vera

Original article by Anthony Rimmer | Last updated on 12/3/2013
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  • Polycythaemia is a raised RBC count, haemoglobin and packed cell volume/haematocrit
  • Absolute increase in red cell mass: polycythemia vera, secondary to hypoxia or abnormal EPO secretion
  • Apparent polycythemia: plasma volume reduced, red cell mass unchanged
  • If packed cell volume/haematocrit persistently raised (male >0.52, female >0.48) this warrants investigation
  • Polycythemia vera myeloproliferative disorder, 90% have JAK2 (Janus kinase 2) mutation
  • Presentation: headaches, dizziness, lethargy, sweating and pruritus
  • Increased risk of thrombosis (especially strokes) and bleeding (hyperviscosity and platelet dysfunction)
  • Increased cell turnover may lead to gout
  • Signs: plethora, rosacea, palpable splenomegaly
  • Investigations: elevated WCC, elevated platelets, iron deficiency, EPO estimation normal or low
  • Bone marrow: hypercellularity
  • Management: aspirin (75mg/day), venesection (haematocrit to <0.45)
  • Advanced disease: hydroxycarbamide to suppress erythropoiesis
  • Median survival >10 years, 10% transform to myelofibrosis, 5% to AML