title: Cholesterol and family history: when genetics matters.
abstract: Familial hypercholesterolemia (FH) is an inherited, autosomal codominant disease that increases the risk for cardiovascular mortality by 100 fold. Patients usually have LDL levels above 300 mg/dl. Although signs such as tendon xanthomas, xanthelasmas and corneal arcus may suggest the diagnosis, genetic testing is the'most accurate way of diagnosing FH. Genetic testing has been shown to be a cost-efficient method to screen individuals and their relatives for FH. Establishing an accurate diagnosis is important: high potency statins are first-choice agents, the treatment goal is at least a 50% reduction in LDL cholesterol, and LDL apheresis may be indicated.
authors.forename: Jaime
authors.initials: J
authors.lastname: Vengoechea
authors.forename: Kent D
authors.initials: KD
authors.lastname: McKelvey
mesh_terms: D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D006801:Humans; D019161:Hydroxymethylglutaryl-CoA Reductase Inhibitors / Q000627:therapeutic use; D006938:Hyperlipoproteinemia Type II / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics; D010375:Pedigree
chemical_list: D019161:Hydroxymethylglutaryl-CoA Reductase Inhibitors