ABSTRACT
Familial hypercholesterolemia (FH) is an important model disease. The fundamental defect is an abnormality in a receptor molecule [1]. The study of this disease, especially in the homozygous form, has provided insights into the regulation of the metabolism of cholesterol. This has led to practical approaches to the management of the more common heterozygous disease and other forms of hypercholesterolemia. Familial hypercholesterolemia makes for compelling evidence of the causal relationship between elevated levels of cholesterol in the blood and coronary atherosclerosis.
