title: Hypolipidemic treatment of heterozygous familial hypercholesterolemia: a lifelong challenge.
abstract: In familial hypercholesterolemia, a defect in low-density lipoprotein receptors causes lifelong two- to threefold elevations in serum low-density lipoprotein-cholesterol levels. This leads to early atherosclerotic changes in infancy. Lifelong hypolipidemic treatment that can be started at a young age is thus greatly needed. Early diagnosis of familial hypercholesterolemia is important, and improved DNA tests for low-density lipoprotein receptor mutations have made it possible to carry out diagnosis at birth. A low saturated-fat, low cholesterol diet can be safely started at 7 months of age. This can be accompanied by dietary stanol esters from 2 years of age. At the age of 10, statin treatment can be safely started. In adults, more aggressive hypolipidemic treatment is required in order to reach the treatment goal for serum low-density lipoprotein-cholesterol levels less than 2.5 mmol/l. This can be achieved by using high doses of statin, or preferably by combining a statin with resin or ezetimibe (Zeita), Merck and Shering-Plough Pharmaceuticals). Once started, treatment of familial hypercholesterolemia is lifelong.
authors.affiliation: Department of Medicine, University of Helsinki and Helsinki University Central Hospital, PoBox 105, FIN-00029 HUS, Finland. alpo.vuorio@hus.fi
authors.forename: Alpo F
authors.initials: AF
authors.lastname: Vuorio
authors.forename: Petri T
authors.initials: PT
authors.lastname: Kovanen
authors.forename: Helena
authors.initials: H
authors.lastname: Gylling
mesh_terms: D006579:Heterozygote; D006801:Humans; D019161:Hydroxymethylglutaryl-CoA Reductase Inhibitors / Q000627:therapeutic use; D006938:Hyperlipoproteinemia Type II / Q000175:diagnosis / Q000188:drug therapy* / Q000235:genetics*; D000960:Hypolipidemic Agents / Q000627:therapeutic use*; D009154:Mutation / Q000187:drug effects / Q000235:genetics; D011973:Receptors, LDL / Q000187:drug effects / Q000235:genetics
chemical_list: D019161:Hydroxymethylglutaryl-CoA Reductase Inhibitors; D000960:Hypolipidemic Agents; D011973:Receptors, LDL