ABSTRACT
Familial hypercholesterolemia (FH) is an important model disease. FH makes for compelling evidence of the causal relationship between elevated levels of cholesterol in the blood and coronary atherosclerosis. The most significant clinical consequence of FH is the occurrence of severe atherosclerosis in the aorta and coronary arteries because low-density lipoprotein-derived cholesterol is also deposited in arterial atheromatous plaques. Monoclonal antibodies to the PCSK9 convertase have emerged as treatment for even homozygous FH. Transplantation of the liver has been performed in a six-year-old child with homozygous disease. The average age of onset of coronary disease was significantly higher after widespread use of statins in Japan. The corneal arcus is also seen in people with normal lipid metabolism, but in this disease, it occurs at under 45 years of age. In heterozygotes, it is found in 10 percent by 30 years of age and in 50 percent of those over 30 years.
