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General Medicine · Haematology: factor V Leiden
Sample itemA 28-year-old woman has a deep vein thrombosis, a family history of venous thrombosis and normal levels of protein C, protein S and antithrombin. What is the most likely inherited cause?
Original practice item, not a recalled exam question. Nothing here is recorded.
The answer and the reasoning
C. Factor V Leiden mutation
Factor V Leiden (R506Q) makes factor Va resistant to cleavage by activated protein C and is the commonest inherited thrombophilia, particularly in people of European descent. Diagnosis is by APC resistance assay or genotyping. Deficiencies of natural anticoagulants are rarer and are excluded here by normal levels.
Option by option
A. Protein C deficiency
Protein C levels are normal.
B. Antithrombin deficiency
Antithrombin levels are normal.
C. Factor V Leiden mutation (correct)
Correct. APC resistance from factor V Leiden is the most common cause.
D. Protein S deficiency
Protein S levels are normal.
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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