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Pathology · Haematology: polycythaemia vera
Sample itemA 58-year-old man has headache, itching after a hot bath and a plethoric face. Haemoglobin is 19 g/dL, platelets 480,000 and leukocytes 13,000 per microlitre, with splenomegaly. Which finding supports polycythaemia vera and not secondary polycythaemia?
Original practice item, not a recalled exam question. Nothing here is recorded.
The answer and the reasoning
B. Low serum erythropoietin level with JAK2 V617F mutation
Polycythaemia vera is a myeloproliferative neoplasm, with a JAK2 V617F mutation in most patients, that causes erythropoietin-independent red cell production, so serum erythropoietin is low. Secondary polycythaemia has raised erythropoietin, whether from hypoxia or from a tumour. Treatment is by phlebotomy to keep the haematocrit below 45 percent with low-dose aspirin, and complications include thrombosis and Budd-Chiari syndrome.
Option by option
A. Raised carboxyhaemoglobin level
Raised carboxyhaemoglobin in smokers causes secondary polycythaemia through tissue hypoxia.
B. Low serum erythropoietin level with JAK2 V617F mutation (correct)
Correct. Low erythropoietin with JAK2 mutation indicates autonomous red cell production.
C. Reduced arterial oxygen saturation
Reduced arterial oxygen saturation drives secondary polycythaemia, as in chronic lung disease or high altitude.
D. High serum erythropoietin level
A high erythropoietin level is expected in secondary polycythaemia.
Source note: Original NextPrep sample item — pending expert review. This item is original practice material awaiting independent expert review, so confirm important facts in a standard textbook.
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