An Interesting Case of Familial Homozygous Hypercholesterolemia-A Brief Review

Familial hypercholesterolemia (FH) is a form of primary hyperlipoproteinemia, is an autosomal co-dominant disorder, characterized by an increase in serum LDL cholesterol concentrations, presence of xanthomas and premature atherosclerosis. Homozygous familial hypercholesterolemia is of rare occurence in which approximately 1 in 1 million persons in the general population are affected. Here we report an interesting case of familial homozygous hypercholesterolemia for its classical presentation and rarity.