Definitions for familial hypercholesterolemia
This page provides all possible meanings and translations of the word familial hypercholesterolemia
congenital disorder characterized by high levels of cholesterol and early development of atherosclerosis
Familial hypercholesterolemia is a genetic disorder characterized by high cholesterol levels, specifically very high levels of low-density lipoprotein, in the blood and early cardiovascular disease. Many patients have mutations in the LDLR gene that encodes the LDL receptor protein, which normally removes LDL from the circulation, or apolipoprotein B, which is the part of LDL that binds with the receptor; mutations in other genes are rare. Patients who have one abnormal copy of the LDLR gene may have premature cardiovascular disease at the age of 30 to 40. Having two abnormal copies may cause severe cardiovascular disease in childhood. Heterozygous FH is a common genetic disorder, inherited in an autosomal dominant pattern, occurring in 1:500 people in most countries; homozygous FH is much rarer, occurring in 1 in a million births. Heterozygous FH is normally treated with statins, bile acid sequestrants or other hypolipidemic agents that lower cholesterol levels. New cases are generally offered genetic counseling. Homozygous FH often does not respond to medical therapy and may require other treatments, including LDL apheresis and occasionally liver transplantation.
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