title: Early diagnosis and treatment of familial hypercholesterolemia: improving patient outcomes.
abstract: Familial hypercholesterolemia (FH) is the most frequent inherited disorder associated with premature coronary artery disease. Early identification and treatment of patients will reduce cardiovascular outcomes. Identification of index cases and then cascade testing in first-degree relatives using lipid levels and genetic test is the most cost-effective strategy implemented in some countries. FH patients are considered at high cardiovascular risk. Imaging techniques such as coronary computed tomography angiography could identify subjects that will require more intensive treatments. Recent guidelines recommend an LDL-C below 100 mg/dl or at least 50% LDL-C reduction if the first goal is not attained as treatment targets in heterozygous FH. Statins are the first-line agents in almost all patients, and several options exist to obtain larger LDL-C reductions like the addition of ezetimibe and/or colesevelam. Novel agents like microsomal triglyceride transfer protein inhibitors, apolipoprotein B100 antisense or PCSK9-specific monoclonal antibodies, if approved by regulatory agencies, will reduce LDL-C levels and potentially reduce cardiovascular risk in homozygous and severe heterozygous FH patients.
authors.affiliation: Lipid Clinic, Internal Medicine Department, IIS-Fundación Jiménez Díaz, Madrid, Spain. ralonso@fjd.es
authors.forename: Rodrigo
authors.initials: R
authors.lastname: Alonso
authors.forename: Pedro
authors.initials: P
authors.lastname: Mata
authors.forename: Daniel
authors.initials: D
authors.lastname: Zambón
authors.forename: Nelva
authors.initials: N
authors.lastname: Mata
authors.forename: Francisco
authors.initials: F
authors.lastname: Fuentes-Jiménez
mesh_terms: D000924:Anticholesteremic Agents / Q000494:pharmacology / Q000627:therapeutic use*; D002318:Cardiovascular Diseases / Q000209:etiology / Q000517:prevention & control*; D008078:Cholesterol, LDL / Q000097:blood; D017023:Coronary Angiography / Q000379:methods; D003324:Coronary Artery Disease / Q000209:etiology / Q000517:prevention & control; D042241:Early Diagnosis; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000150:complications / Q000175:diagnosis / Q000628:therapy*; D017410:Practice Guidelines as Topic; D014057:Tomography, X-Ray Computed / Q000379:methods
chemical_list: D000924:Anticholesteremic Agents; D008078:Cholesterol, LDL