What Is Familial Hypercholesterolemia, and Why Does It Matter?

Amit V Khera^{1

2

3}, Robert A Hegele⁴

Affiliations

¹ Center for Genomic Medicine and Division of Cardiology, Department of Medicine, Massachusetts General Hospital, Boston (A.V.K.).
² Cardiovascular Disease Initiative, Broad Institute of MIT and Harvard, Cambridge, MA (A.V.K.).
³ Department of Medicine, Harvard Medical School, Boston, MA (A.V.K.).
⁴ Departments of Medicine and Biochemistry and Robarts Research Institute, Schulich School of Medicine and Dentistry, Western University, London, Canada (R.A.H.).

Editorial

Amit V Khera et al. Circulation. 2020.

. 2020 Jun 2;141(22):1760-1763.

doi: 10.1161/CIRCULATIONAHA.120.046961. Epub 2020 Jun 1.

Amit V Khera^{1

2

3}, Robert A Hegele⁴

¹ Center for Genomic Medicine and Division of Cardiology, Department of Medicine, Massachusetts General Hospital, Boston (A.V.K.).
² Cardiovascular Disease Initiative, Broad Institute of MIT and Harvard, Cambridge, MA (A.V.K.).
³ Department of Medicine, Harvard Medical School, Boston, MA (A.V.K.).
⁴ Departments of Medicine and Biochemistry and Robarts Research Institute, Schulich School of Medicine and Dentistry, Western University, London, Canada (R.A.H.).

No abstract available

Keywords: Editorials; atherosclerosis; cholesterol, LDL; hypercholesterolemia.

Comment on

Prevalence of Familial Hypercholesterolemia Among the General Population and Patients With Atherosclerotic Cardiovascular Disease: A Systematic Review and Meta-Analysis.
Hu P, Dharmayat KI, Stevens CAT, Sharabiani MTA, Jones RS, Watts GF, Genest J, Ray KK, Vallejo-Vaz AJ. Hu P, et al. Circulation. 2020 Jun 2;141(22):1742-1759. doi: 10.1161/CIRCULATIONAHA.119.044795. Epub 2020 May 29. Circulation. 2020. PMID: 32468833

1. Defesche JC, Gidding SS, Harada-Shiba M, Hegele RA, Santos RD, Wierzbicki AS. Familial hypercholesterolaemia. Nat Rev Dis Primers. 2017; 3:17093. doi: 10.1038/nrdp.2017.93 - DOI - PubMed
1. Goldstein JL, Brown MS. The LDL receptor. Arterioscler Thromb Vasc Biol. 2009; 29:431–438. doi: 10.1161/ATVBAHA.108.181586. - DOI - PMC - PubMed
1. Ference BA, Ginsberg HN, Graham I, Ray KK, Packard CJ, Bruckert E, Hegele RA, Krauss RM, Raal FJ, Schunkert H, et al. Low-density lipoproteins cause atherosclerotic cardiovascular disease. 1. Evidence from genetic, epidemiologic, and clinical studies. A consensus statement from the European Atherosclerosis Society Consensus Panel. Eur Heart J. 2017; 38:2459–2472. DOI: 10.1093/eurheartj/ehx144 - DOI - PMC - PubMed
1. Rosenson RS, Hegele RA, Koenig W. Cholesterol-Lowering Agents. Circ Res. 2019; 124:364–385. doi: 10.1161/CIRCRESAHA.118.313238 - DOI - PubMed
1. George R, Kovak K, Cox SL. Aligning policy to promote cascade genetic screening for prevention and early diagnosis of heritable diseases. J Genet Couns. 2015; 24:388–399. doi: 10.1007/s10897-014-9805-5. - DOI - PubMed