ABSTRACT

Familial hypercholesterolemia (FH) is an inherited metabolic disorder charaterized by an increased level of plasma apolipoprotein B containing lipoprotein, which is attributed to a genetic deficiency in the specific surface receptor of LDL. 1 - 2 Patients suffering from this disease are unable to clear LDL by LDL-receptor-mediated endocytosis and so they have 5 times or more the normal concentration of LDL in their plasma. Homozygous patients develop fatal premature atherosclerotic vascular lesions in the first decade of their lives and heterozygotes develop these lesions in the third decade. 3