title: 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.
authors.affiliation: Department of Medicine, Rafatullah Community Hospital, Bogra, Bangladesh. a.montasir@gmail.com
authors.forename: Ahmed
authors.initials: A
authors.lastname: Al Montasir
authors.forename: Mainul Hasan
authors.initials: MH
authors.lastname: Sadik
mesh_terms: D000328:Adult; D001112:Arcus Senilis / Q000150:complications; D008078:Cholesterol, LDL / Q000097:blood; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000097:blood / Q000150:complications*; D008297:Male; D009203:Myocardial Infarction / Q000150:complications*; D012871:Skin Diseases / Q000150:complications* / Q000235:genetics; D014973:Xanthomatosis / Q000150:complications* / Q000235:genetics
chemical_list: D008078:Cholesterol, LDL