title: [Familial hypercholesterolemia].
abstract: Familial hypercholesterolemia is characterized by a high plasma LDL-cholesterol level. The low-density particles are the end-product of the triglyceride-rich particles, i.e. VLDL, synthetized by the liver. These triglyceride-rich particles are subsequently transformed into intermediate density lipoprotein by the lipoprotein lipase and LDL after further triglyceride hydrolysis by the hepatic lipase. The LDL particles are taken up in all cells by the mean of the LDL receptor. A large body of evidence (including experimental, clinical, epidemiological data as well as the results of large trial with lipid lowering drugs) has accumulated to establish that these particles are one of the major causative factor of atherosclerosis and its complications. Two different mechanisms may be at work in the familial hypercholesterolemia: a mutation in the LDL receptor or a single mutation in the apolipoprotein B100. Specific therapeutic intervention should be undertaken to decrease the risk to develop cardiovascular disease, mainly coronary heart disease. The therapeutic intervention includes both a diet low in saturated fatty acids and cholesterol and statins which are now the first line therapy. Fibrates are proposed to those who do not tolerate statins and LDL-apheresis is associated to statin in the rare homozygous familial hypercholesterolemia.
authors.affiliation: Service d'Endocrinologie-Métabolisme, Groupe Hospitalier Pitié-Salpêtrière, Paris.
authors.forename: G
authors.initials: G
authors.lastname: Turpin
authors.forename: E
authors.initials: E
authors.lastname: Bruckert
mesh_terms: D000924:Anticholesteremic Agents / Q000627:therapeutic use; D053299:Apolipoprotein B-100; D001055:Apolipoproteins B / Q000235:genetics; D002784:Cholesterol / Q000097:blood; D002791:Cholesterol, Dietary / Q000008:administration & dosage; D004032:Diet; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000235:genetics / Q000503:physiopathology / Q000628:therapy; D008077:Lipoproteins, LDL / Q000378:metabolism; D008079:Lipoproteins, VLDL / Q000378:metabolism; D009154:Mutation; D011973:Receptors, LDL / Q000235:genetics
chemical_list: D000924:Anticholesteremic Agents; D053299:Apolipoprotein B-100; D001055:Apolipoproteins B; D002791:Cholesterol, Dietary; D008077:Lipoproteins, LDL; D008079:Lipoproteins, VLDL; D011973:Receptors, LDL; D002784:Cholesterol