What Is Familial Hypercholesterolemia, and Why Does It Matter?

被引：32

作者：

Khera, Amit V. ^{[1
,2
,3
,4
]}

Hegele, Robert A. ^{[5
,6
,7
]}

机构：

[1] Massachusetts Gen Hosp, Dept Med, Ctr Genom Med, Boston, MA 02114 USA

[2] Massachusetts Gen Hosp, Dept Med, Div Cardiol, Boston, MA 02114 USA

[3] Broad Inst MIT & Harvard, Cardiovasc Dis Initiat, Cambridge, MA 02142 USA

[4] Harvard Med Sch, Dept Med, Boston, MA 02115 USA

[5] Western Univ, Dept Med, London, ON, Canada

[6] Western Univ, Dept Biochem, London, ON, Canada

[7] Western Univ, Robarts Res Inst, Schulich Sch Med & Dent, London, ON, Canada

来源：

CIRCULATION | 2020年 / 141卷 / 22期

基金：

加拿大健康研究院;

关键词：

Editorials; atherosclerosis; cholesterol; LDL; hypercholesterolemia;

D O I：

10.1161/CIRCULATIONAHA.120.046961

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

[No abstract available]

引用

页码：1760 / 1763

页数：4

共 15 条

[1] Genetic identification of familial hypercholesterolemia within a single US health care system [J].

Abul-Husn, Noura S. ;

Manickam, Kandamurugu ;

Jones, Laney K. ;

Wright, Eric A. ;

Hartzel, Dustin N. ;

Gonzaga-Jauregui, Claudia ;

O'Dushlaine, Colm ;

Leader, Joseph B. ;

Kirchner, H. Lester ;

Lindbuchler, D'Andra M. ;

Barr, Marci L. ;

Giovanni, Monica A. ;

Ritchie, Marylyn D. ;

Overton, John D. ;

Reid, Jeffrey G. ;

Metpally, Raghu P. R. ;

Wardeh, Amr H. ;

Borecki, Ingrid B. ;

Yancopoulos, George D. ;

Baras, Aris ;

Shuldiner, Alan R. ;

Gottesman, Omri ;

Ledbetter, David H. ;

Carey, David J. ;

Dewey, Frederick E. ;

Murray, Michael F. .

SCIENCE, 2016, 354 (6319)

[2] Mutations causative of familial hypercholesterolaemia: screening of 98 098 individuals from the Copenhagen General Population Study estimated a prevalence of 1 in 217 [J].

Benn, Marianne ;

Watts, Gerald F. ;

Tybjaerg-Hansen, Anne ;

Nordestgaard, Borge G. .

EUROPEAN HEART JOURNAL, 2016, 37 (17) :1384-1394

[3] The complex molecular genetics of familial hypercholesterolaemia [J].

Berberich, Amanda J. ;

Hegele, Robert A. .

NATURE REVIEWS CARDIOLOGY, 2019, 16 (01) :9-20

[4] Familial hypercholesterolaemia [J].

Defesche, Joep C. ;

Gidding, Samuel S. ;

Harada-Shiba, Mariko ;

Hegele, Robert A. ;

Santos, Raul D. ;

Wierzbicki, Anthony S. .

NATURE REVIEWS DISEASE PRIMERS, 2017, 3

[5] 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 [J].

Ference, Brian A. ;

Ginsberg, Henry N. ;

Graham, Ian ;

Ray, Kausik K. ;

Packard, Chris J. ;

Bruckert, Eric ;

Hegele, Robert A. ;

Krauss, Ronald M. ;

Raal, Frederick J. ;

Schunkert, Heribert ;

Watts, Gerald F. ;

Boren, Jan ;

Fazio, Sergio ;

Horton, Jay D. ;

Masana, Luis ;

Nicholls, Stephen J. ;

Nordestgaard, Borge G. ;

van de Sluis, Bart ;

Taskinen, Marja-Riitta ;

Tokgozoglu, Lale ;

Landmesser, Ulf ;

Laufs, Ulrich ;

Wiklund, Olov ;

Stock, Jane K. ;

Chapman, M. John ;

Catapano, Alberico L. .

EUROPEAN HEART JOURNAL, 2017, 38 (32) :2459-2472

[6] Aligning Policy to Promote Cascade Genetic Screening for Prevention and Early Diagnosis of Heritable Diseases [J].

George, Rani ;

Kovak, Karen ;

Cox, Summer L. .

JOURNAL OF GENETIC COUNSELING, 2015, 24 (03) :388-399

[7] The LDL Receptor [J].

Goldstein, Joseph L. ;

Brown, Michael S. .

ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY, 2009, 29 (04) :431-438

[8] Prevalence of Familial Hypercholesterolemia Among the General Population and Patients With Atherosclerotic Cardiovascular Disease A Systematic Review and Meta-Analysis [J].

Hu, Pengwei ;

Dharmayat, Kanika I. ;

Stevens, Christophe A. T. ;

Sharabiani, Mansour T. A. ;

Jones, Rebecca S. ;

Watts, Gerald F. ;

Genest, Jacques ;

Ray, Kausik K. ;

Vallejo-Vaz, Antonio J. .

CIRCULATION, 2020, 141 (22) :1742-1759

[9] Diagnostic Yield and Clinical Utility of Sequencing Familial Hypercholesterolemia Genes in Patients With Severe Hypercholesterolemia [J].

Khera, Amit V. ;

Won, Hong-Hee ;

Peloso, Gina M. ;

Lawson, Kim S. ;

Bartz, Traci M. ;

Deng, Xuan ;

van Leeuwen, Elisabeth M. ;

Natarajan, Pradeep ;

Emdin, Connor A. ;

Bick, Alexander G. ;

Morrison, Alanna C. ;

Brody, Jennifer A. ;

Gupta, Namrata ;

Nomura, Akihiro ;

Kessler, Thorsten ;

Duga, Stefano ;

Bis, Joshua C. ;

van Duijn, Cornelia M. ;

Cupples, L. Adrienne ;

Psaty, Bruce ;

Rader, Daniel J. ;

Danesh, John ;

Schunkert, Heribert ;

McPherson, Ruth ;

Farrall, Martin ;

Watkins, Hugh ;

Lander, Eric ;

Wilson, James G. ;

Correa, Adolfo ;

Boerwinkle, Eric ;

Merlini, Piera Angelica ;

Ardissino, Diego ;

Saleheen, Danish ;

Gabriel, Stacey ;

Kathiresan, Sekar .

JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY, 2016, 67 (22) :2578-2589

[10] Cholesterol-Lowering Agents PCSK9 Inhibitors Today and Tomorrow [J].

Rosenson, Robert S. ;

Hegele, Robert A. ;

Koenig, Wolfgang .

CIRCULATION RESEARCH, 2019, 124 (03) :364-385

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