گزارش مورد نادري از هيپرلكستولمي فاميليال هوزيگوت

A Rare Case with Homozygous Familial Hypercholesterolemia

Homozygous familial hypercholesterolemia (HFH) is a rare disease. It might result in fatal myocardial infarction or severe aortic stenosis even in childhood. General physical examination of a 19-year-boy patient and his first degree relatives was preformed. Appropriate paraclinical studies including lipid profile, electrocardiogram, exercise tolerance test and selective coronary angiography were accomplished. A very high level of total and low density lipoprotein along with xanthomas at presence of strong familial history is in favor of HFH. In our patient presence of severe Coronary artery disease, documented by angiography, confirmed our initial clinical impression. Multiple skin xanthomas at young age group patients imply severe lipid metabolic disorder.