Screening and management of familial hypercholesterolemia

Current Opinion in Cardiology
Raul D Santos

Abstract

To discuss recent findings related to epidemiology, diagnosis, natural history, atherosclerotic cardiovascular disease (ASCVD) risk heterogeneity and stratification, and treatment of familial hypercholesterolemia. Familial hypercholesterolemia persists subdiagnosed, inadequately treated and social disparities aggravate this scenario. Molecular diagnosis is recommended but still not widely available and reimbursed, also recent reclassification of genetic variants associated with familial hypercholesterolemia limits its routine use. New familial hypercholesterolemia clinical diagnostic criteria like FAMCAT are being tested and are apparently more accurate than the classical ones. Genetic traits for familial hypercholesterolemia and high lipoprotein(a) concentrations apparently co-exist and are associated with a higher ASVCD risk than each alone. Indeed, ASCVD risk is heterogenous in heterozygous familial hypercholesterolemia and prospective studies show that it is influenced not only by high LDL-C but also by other risk features like smoking, hypertension, or diabetes. Coronary artery calcification might indicate a higher risk familial hypercholesterolemia population that could benefit from further LDL-C lowering with PCSK9 inhib...Continue Reading

References

Oct 6, 2014·Lancet·Raul D Santos, Gerald F Watts
Apr 7, 2016·Journal of the American College of Cardiology·Amit V KheraSekar Kathiresan
May 18, 2016·The Lancet. Diabetes & Endocrinology·Anne LangstedBørge G Nordestgaard
Jun 2, 2016·The Lancet. Diabetes & Endocrinology·Raul D SantosUNKNOWN International Atherosclerosis Society Severe Familial Hypercholesterolemia Panel
Nov 14, 2016·JAMA : the Journal of the American Medical Association·Roger ChouThomas L Jeanne
Dec 9, 2017·Nature Reviews. Disease Primers·Joep C DefescheAnthony S Wierzbicki
Apr 25, 2018·Journal of Clinical Lipidology·Paul M RidkerUNKNOWN Studies of PCSK9 Inhibition and the Reduction of vascular Events (SPIRE) Investigators
Aug 4, 2018·Journal of the American College of Cardiology·Amy C SturmUNKNOWN Convened by the Familial Hypercholesterolemia Foundation
Oct 3, 2018·Atherosclerosis·UNKNOWN EAS Familial Hypercholesterolaemia Studies CollaborationUNKNOWN EAS Familial Hypercholesterolaemia Studies Collaboration (FHSC) Investigators
Oct 13, 2018·Human Mutation·Michael A IacoccaUNKNOWN ClinGen FH Variant Curation Expert Panel
Nov 22, 2018·Atherosclerosis·Steve E HumphriesUNKNOWN Simon Broome Familial Hyperlipidaemia Register Group
Feb 25, 2019·Journal of Clinical Lipidology·Jing PangGerald F Watts
Mar 9, 2019·Journal of the American College of Cardiology·Katrina L EllisPedro Mata

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Citations

May 9, 2021·Current Atherosclerosis Reports·Hofit CohenUNKNOWN The Mighty Medic Satellite Research Group for Pediatric Dyslipidemia

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