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Therapeutic Management of Familial Hypercholesterolemia: Current and Emerging Drug Therapies
Author(s) -
Patel Roshni S.,
Scopelliti Emily M.,
Savelloni Julie
Publication year - 2015
Publication title -
pharmacotherapy: the journal of human pharmacology and drug therapy
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.227
H-Index - 109
eISSN - 1875-9114
pISSN - 0277-0008
DOI - 10.1002/phar.1672
Subject(s) - familial hypercholesterolemia , alirocumab , evolocumab , medicine , kexin , pcsk9 , microsomal triglyceride transfer protein , proprotein convertase , pharmacology , population , drug , apolipoprotein b , ldl receptor , bioinformatics , lipoprotein , cholesterol , very low density lipoprotein , biology , environmental health , apolipoprotein a1
Familial hypercholesterolemia ( FH ) is a genetic disorder characterized by significantly elevated low‐density lipoprotein cholesterol ( LDL ‐C) concentrations that result from mutations of the LDL receptor, apolipoprotein B (apo B‐100), and proprotein convertase subtilisin/kexin type 9 ( PCSK 9). Early and aggressive treatment can prevent premature atherosclerotic cardiovascular disease in these high‐risk patients. Given that the cardiovascular consequences of FH are similar to typical hypercholesterolemia, traditional therapies are utilized to decrease LDL ‐C levels. Patients with FH should receive statins as first‐line treatment; high‐potency statins at high doses are often required. Despite the use of statins, additional treatments are often necessary to achieve appropriate LDL ‐C lowering in this patient population. Novel drug therapies that target the pathophysiologic defects of the condition are continuously emerging. Contemporary therapies including mipomersen (Kynamro, Genzyme), an oligonucleotide inhibitor of apo B‐100 synthesis; lomitapide (Juxtapid, Aegerion), a microsomal triglyceride transfer protein inhibitor; and alirocumab (Praluent, Sanofi‐Aventis/Regeneron) and evolocumab (Repatha, Amgen), PCSK 9 inhibitors, are currently approved by the U.S. Food and Drug Administration for use in FH . This review highlights traditional as well as emerging contemporary therapies with supporting clinical data to evaluate current recommendations and discuss the future direction of FH management.