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Pathology · Haematology: factor XIII deficiency
Sample itemA neonate bleeds from the umbilical stump after the cord has separated, and later shows poor wound healing. Platelet count, PT, aPTT and bleeding time are normal. Which test would establish the diagnosis?
Original practice item, not a recalled exam question. Nothing here is recorded.
The answer and the reasoning
C. Clot solubility in 5 M urea
Factor XIII cross-links fibrin, so its deficiency causes delayed bleeding, umbilical stump bleeding and poor healing with normal PT, aPTT, platelet count and bleeding time. The screening test is a clot solubility test, where the clot dissolves in urea or monochloroacetic acid, and the diagnosis is confirmed by factor XIII assay.
Option by option
A. Mixing study
A mixing study evaluates a prolonged aPTT or PT, which are normal here.
B. Ristocetin cofactor assay
Ristocetin cofactor activity tests von Willebrand factor, which would prolong the bleeding time.
C. Clot solubility in 5 M urea (correct)
Correct. A clot lacking factor XIII cross-links dissolves in 5 M urea.
D. Platelet aggregometry
Platelet aggregometry assesses platelet function disorders, which would prolong the bleeding time.
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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