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General Medicine · Haematology
Sample itemA 6-year-old boy has recurrent painful swelling of the knee and bleeds after tooth extraction. Platelet count and PT are normal, but aPTT is prolonged and corrects on mixing with normal plasma. Which is the most likely diagnosis?
Original practice item, not a recalled exam question. Nothing here is recorded.
The answer and the reasoning
B. Haemophilia A
Haemophilia A is an X-linked deficiency of factor VIII that causes haemarthroses and deep tissue bleeding, with an isolated prolonged aPTT that corrects on mixing. Diagnosis is confirmed by factor VIII assay. Treatment is factor VIII replacement, and desmopressin is used for mild disease.
Option by option
A. Vitamin K deficiency
Vitamin K deficiency prolongs the PT as well, and is rare in this scenario.
B. Haemophilia A (correct)
Correct. Haemarthrosis in a boy with prolonged aPTT that corrects points to haemophilia A.
C. Von Willebrand disease type 1
Von Willebrand disease type 1 is mild, with mucosal bleeding and a prolonged bleeding time, and haemarthrosis is uncommon.
D. Immune thrombocytopenia
Immune thrombocytopenia causes a low platelet count with mucocutaneous bleeding.
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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