Acute myocardial infarction in a 28 year man with familial hypercholesterolemia.

ABSTRACT

Familial hypercholesterolemia is a single gene disorder. It has autosomal dominant pattern of inheritance. We report a 28-year-old man who presented with acute myocardial infarction. He had xanthomas and an elevated serum low density lipoprotein cholesterol (LDL-C). His only sibling, 32-year-old brother have similar cutaneous lesions and lipid profile. His mother and maternal uncle died at a young age due to myocardial infarction. This report is to emphasize the need to clinically recognize xanthomas and its familial inheritance with elevated LDL-C, premature atherosclerosis. Early diagnosis and early initiation of treatment will save the affected individual and the other family members.