NeuroGenetics
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Genetic Causes of Stroke
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Question 1
MTHFR C677T homozygosity is found on a thrombophilia panel ordered during young stroke workup. The appropriate clinical response is:
A
Start anticoagulation — MTHFR homozygosity is a high-risk thrombophilia requiring indefinite treatment
B
Measure plasma homocysteine — MTHFR variant is only clinically relevant if it causes elevated homocysteine
C
Refer to genetics for MTHFR-specific counseling — this is a recognized monogenic stroke syndrome
D
Recommend folate supplementation prophylactically regardless of homocysteine level
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