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Polycythaemia Vera — RACP Adult Medicine MCQ

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EasyHaematologyPolycythaemia VeraRACP Adult Medicine

A 55-year-old man presents with plethoric facies, pruritus (especially after hot bath/shower), and splenomegaly. Hb is 195 g/L, Hct 0.58, WCC 14 × 10⁹/L, platelets 550 × 10⁹/L. EPO is suppressed (<2 mU/mL). JAK2 V617F mutation is positive. What is the most likely diagnosis?

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Correct answer: A — Polycythaemia vera

Erythrocytosis (Hb >165 in men) with suppressed EPO, JAK2 V617F positivity, splenomegaly, aquagenic pruritus, and trilineage hyperproliferation (elevated WCC and platelets) is polycythaemia vera. WHO 2022 diagnostic criteria: Hb >165 (men) OR Hct >0.49, JAK2 mutation, and bone marrow trilineage hyperplasia. Treatment: aspirin + venesection (target Hct <0.45) ± cytoreduction (hydroxyurea) if high-risk.

Reference: WHO – 2022 – MPN Classification; ELN 2024