Homocystinuria was discovered in a 21-year-old woman when she presented with lower limb ischemia and pulmonary embolism. This patient had a partial deficit in cystathionine-synthetase and took strongly dosed oral contraceptive medication. This report underscores: (1) the value of searching for this type of pathology even in the adult; (2) the possibility of disclosure by another condition, and particularly, drug-induced; (3) the importance of searching for other involved members of the same family; and (4) the possibility of treatment in vitamin sensitive patients.
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