Abstract

HoFH is a rare and life-threatening disease originally characterized by plasma cholesterol levels > 500mg/dl, extensive xanthomas, and marked premature and progressive atherosclerotic cardiovascular disease [1]. Genetic defects in the LDL receptor causing the inability to internalize LDL was first identified by Brown and Goldstein [2]. There are two types of familial hypercholesterolemia: the heterozygous and homozygous forms. The heterozygous form, in which the patient has one normal allele and one mutated allele, the most common form, is considered to have prevalence as high as of 1 out 2003. The homozygous form, in which the patient has two mutated alleles, has a prevalence as high as 1 in 160, 0003.