title: Familial Hypercholesterolemia: Advances in Recognition and Therapy.
abstract: Familial hypercholesterolemia (FH) is an autosomal co-dominant genetic disorder characterized by elevated low-density lipoprotein cholesterol levels and increased risk for premature cardiovascular disease. It is under-diagnosed, yet early detection and treatment are critical to limit premature atherosclerotic disease. High-intensity statins are the mainstay of treatment, which should be started as early as possible in homozygous FH and as soon as the diagnosis of heterozygous FH is made in adults. Combination therapy is often necessary in FH patients and can include the addition of ezetimibe and bile acid sequestrants. Lipoprotein apheresis is used when pharmacotherapy is inadequate, especially for those with homozygous FH and some patients with severe heterozygous FH. Mipomersen and lomitapide are also indicated for patients with homozygous FH. The recently approved PCSK9 inhibitors, alirocumab and evolocumab, are a promising treatment and outcome studies are ongoing. This article reviews the pathophysiology, diagnosis, and management of FH.
authors.affiliation: Division of Endocrinology, Metabolism, and Lipid Research, Department of Medicine, Washington University School of Medicine, Campus Box 8127, 660 South Euclid, St. Louis, MO 63110, USA.
authors.forename: Jacqueline L
authors.initials: JL
authors.lastname: Cartier
authors.affiliation: Division of Endocrinology, Metabolism, and Lipid Research, Department of Medicine, Washington University School of Medicine, Campus Box 8127, 660 South Euclid, St. Louis, MO 63110, USA. Electronic address: agoldber@dom.wustl.edu.
authors.forename: Anne Carol
authors.initials: AC
authors.lastname: Goldberg
mesh_terms: D002318:Cardiovascular Diseases / Q000209:etiology / Q000517:prevention & control*; D042241:Early Diagnosis; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000150:complications / Q000175:diagnosis / Q000188:drug therapy / Q000378:metabolism; D000960:Hypolipidemic Agents / Q000145:classification / Q000494:pharmacology; D008077:Lipoproteins, LDL / Q000378:metabolism*; D054539:Medication Therapy Management / Q000639:trends
chemical_list: D000960:Hypolipidemic Agents; D008077:Lipoproteins, LDL
keywords: Alirocumab; Cascade screening; Ezetimibe; Familial hypercholesterolemia; Gene therapy; Lomitapide; Mipomersen; Proprotein convertase subtilisin/kexin type 9 (PCSK9); Statin; Universal screening