title: Primary hypercholesterolemia: genetic causes and treatment of five monogenic disorders.
abstract: Coronary heart disease is a major cause of death in Europe and the USA. Insudation of atherogenic lipoproteins, including low-density lipoprotein (LDL), into the artery wall is integral to atherosclerosis. It is clear that numerous genetic loci contribute to increased plasma levels of LDL. However, five specific monogenic disorders, three of which have been reported recently, are known to increase LDL. These are familial hypercholesterolemia (LDL receptor gene: LDLR); familial ligand-defective apoB- 100 (apoB gene: APOB); autosomal recessive hypercholesterolemia (ARH gene); sitosterolemia (ABCG5 or ABCG8 genes) and cholesterol 7alpha-hydroxylase deficiency (CYP7A1 gene). This review relates the mechanisms underlying these five disorders with specific therapeutic interventions.
authors.affiliation: Cardiovascular Research Institute, University of California, San Francisco, USA. clivep@itsa.ucsf.edu
authors.forename: Clive R
authors.initials: CR
authors.lastname: Pullinger
authors.forename: John P
authors.initials: JP
authors.lastname: Kane
authors.forename: Mary J
authors.initials: MJ
authors.lastname: Malloy
mesh_terms: D000924:Anticholesteremic Agents / Q000627:therapeutic use; D001384:Azetidines / Q000627:therapeutic use; D002792:Cholestyramine Resin / Q000627:therapeutic use; D018752:Diet, Fat-Restricted; D000069438:Ezetimibe; D020022:Genetic Predisposition to Disease; D006801:Humans; D019161:Hydroxymethylglutaryl-CoA Reductase Inhibitors / Q000627:therapeutic use; D006937:Hypercholesterolemia / Q000235:genetics* / Q000517:prevention & control*; D011973:Receptors, LDL / Q000235:genetics
chemical_list: D000924:Anticholesteremic Agents; D001384:Azetidines; D019161:Hydroxymethylglutaryl-CoA Reductase Inhibitors; D011973:Receptors, LDL; D002792:Cholestyramine Resin; D000069438:Ezetimibe