Abstract

Familial hypercholesterolemia is a genetic disorder due to an autosomal dominant defect in the gene coding the low density lipoprotein receptor and results in increased plasma levels of low density lipoprotein cholesterol. In this article, two patients diagnosed as familial hypercholesterolemia were presented and the pathogenesis, clinical findings, and therapeutic aspects of familial hypercholesterolemia were reviewed. [Journal of Turgut Ozal Medical Center 1997;4(3):302-305]

Key Words: Familial hypercholesterolemia