Defining severe familial hypercholesterolaemia and the implications for clinical management: a consensus statement from the International Atherosclerosis Society Severe Familial Hypercholesterolemia Panel

被引：325

作者：

Santos, Raul D. ^{[1
,2
,3
]}

Gidding, Samuel S. ^{[4
]}

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

Cuchel, Marina A. ^{[7
]}

Barter, Philip J. ^{[8
]}

Watts, Gerald F. ^{[9
]}

Baum, Seth J. ^{[10
]}

Catapano, Alberico L. ^{[11
,12
]}

Chapman, M. John ^{[13
]}

Defesche, Joep C. ^{[14
]}

Folco, Emanuela ^{[16
]}

Freiberger, Tomas ^{[17
,18
]}

Genest, Jacques ^{[19
]}

Hovingh, G. Kees ^{[14
]}

Harada-Shiba, Mariko ^{[20
]}

Humphries, Steve E. ^{[21
]}

Jackson, Ann S. ^{[15
]}

Mata, Pedro ^{[22
]}

Moriarty, Patrick M. ^{[23
]}

Raal, Frederick J. ^{[24
]}

Al-Rasadi, Khalid ^{[25
]}

Ray, Kausik K. ^{[26
]}

Reiner, Zelijko ^{[27
]}

Sijbrands, Eric J. G. ^{[28
]}

Yamashita, Shizuya ^{[29
]}

机构：

[1] Univ Sao Paulo, Lipid Clin Heart Inst InCor, Med Sch Hosp, BR-05403900 Sao Paulo, Brazil

[2] Hosp Israelita Albert Einstein, Prevent Med Ctr, BR-05403900 Sao Paulo, Brazil

[3] Hosp Israelita Albert Einstein, Cardiol Program, BR-05403900 Sao Paulo, Brazil

[4] Alfred I DuPont Hosp Children, Nemours Cardiac Ctr, Wilmington, DE 19803 USA

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

[6] Western Univ, Schulich Sch Med, Robarts Res Inst, London, ON, Canada

[7] Univ Penn, Perelman Sch Med, Div Translat Med & Human Genet, Philadelphia, PA 19104 USA

[8] Univ New S Wales, Sch Med Sci, Sydney, NSW, Australia

[9] Univ Western Australia, Lipid Disorders Clin, Royal Perth Hosp, Perth, WA, Australia

[10] Boca Raton Reg Hosp, Christine E Lynn Womens Hlth & Wellness Inst, Prevent Cardiol, Boca Raton, FL 33486 USA

[11] Univ Milan, Dept Pharmacol & Biomol Sci, Milan, Italy

[12] IRCCS Multimed, Milan, Italy

[13] Pitie Salpetriere Univ Hosp, Paris, France

[14] Univ Amsterdam, Acad Med Ctr, Amsterdam, Netherlands

[15] Int Atherosclerosis Soc, Houston, TX 77030 USA

[16] Int Atherosclerosis Soc, Milan, Italy

[17] Masaryk Univ, Ctr Cardiovasc Surg & Transplantat, Mol Genet Lab, Brno, Czech Republic

[18] Masaryk Univ, Ceitec, Brno, Czech Republic

[19] McGill Univ, Ctr Hlth, Royal Victoria Hosp, Montreal, PQ, Canada

[20] Res Inst, Natl Cerebral & Cardiovasc Ctr, Suita, Osaka, Japan

[21] UCL, Inst Cardiovasc Sci, Ctr Cardiovasc Genet, London, England

[22] Fundac Hipercolesterolemia Familiar, Madrid, Spain

[23] Univ Kansas, Med Ctr, Atherosclerosis & Lipoprotein Apheresis Ctr, Kansas City, KS 66103 USA

[24] Univ Witwatersrand, Fac Hlth Sci, Johannesburg, South Africa

[25] Sultan Qaboos Univ Hosp, Muscat, Oman

[26] Univ London Imperial Coll Sci Technol & Med, Sch Publ Hlth, London, England

[27] European Assoc Cardiovasc Prevent & Rehabil, Zagreb, Croatia

[28] Erasmus MC, Dept Internal Med, Rotterdam, Netherlands

[29] Osaka Univ, Grad Sch Med, Suita, Osaka, Japan

来源：

LANCET DIABETES & ENDOCRINOLOGY | 2016年 / 4卷 / 10期

关键词：

CORONARY-HEART-DISEASE; DENSITY-LIPOPROTEIN-RECEPTOR; COMPUTED-TOMOGRAPHY ANGIOGRAPHY; PLACEBO-CONTROLLED TRIAL; LIPID-LOWERING THERAPY; ELECTRON-BEAM TOMOGRAPHY; ARTERY-DISEASE; CARDIOVASCULAR-DISEASE; FOLLOW-UP; LDL-RECEPTOR;

D O I：

10.1016/S2213-8587(16)30041-9

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Familial hypercholesterolaemia is common in individuals who had a myocardial infarction at a young age. As many as one in 200 people could have heterozygous familial hypercholesterolaemia, and up to one in 300 000 individuals could be homozygous. The phenotypes of heterozygous and homozygous familial hypercholesterolaemia overlap considerably; the response to treatment is also heterogeneous. In this Review, we aim to define a phenotype for severe familial hypercholesterolaemia and identify people at highest risk for cardiovascular disease, based on the concentration of LDL cholesterol in blood and individuals' responsiveness to conventional lipid-lowering treatment. We assess the importance of molecular characterisation and define the role of other cardiovascular risk factors and advanced subclinical coronary atherosclerosis in risk stratification. Individuals with severe familial hypercholesterolaemia might benefit in particular from early and more aggressive cholesterol-lowering treatment (eg, with PCSK9 inhibitors). In addition to better tailored therapy, more precise characterisation of individuals with severe familial hypercholesterolaemia could improve resource use.

引用

页码：850 / 861

页数：12

共 95 条

[31] Usefulness of electron beam tomography in adolescents and young adults with heterozygous familial hypercholesterolemia [J].

Gidding, SS ;

Bookstein, LC ;

Chomka, EV .

CIRCULATION, 1998, 98 (23) :2580-2583

[32] Pharmacogenomics, Lipid Disorders, and Treatment Options [J].

Gryn, S. E. ;

Hegele, R. A. .

CLINICAL PHARMACOLOGY & THERAPEUTICS, 2014, 96 (01) :36-47

[33] Epipolymorphisms within lipoprotein genes contribute independently to plasma lipid levels in familial hypercholesterolemia [J].

Guay, Simon-Pierre ;

Brisson, Diane ;

Lamarche, Benoit ;

Gaudet, Daniel ;

Bouchard, Luigi .

EPIGENETICS, 2014, 9 (05) :718-729

[34] Prognostic value of coronary computed tomography angiography during 5 years of follow-up in patients with suspected coronary artery disease [J].

Hadamitzky, Martin ;

Taeubert, Sebastian ;

Deseive, Simon ;

Byrne, Robert A. ;

Martinoff, Stefan ;

Schoemig, Albert ;

Hausleiter, Joerg .

EUROPEAN HEART JOURNAL, 2013, 34 (42) :3277-3285

[35] TYPE-III DYSLIPOPROTEINEMIA IN PATIENTS HETEROZYGOUS FOR FAMILIAL HYPERCHOLESTEROLEMIA AND APOLIPOPROTEIN-E2 - EVIDENCE FOR A GENE GENE INTERACTION [J].

HOPKINS, PN ;

WU, LL ;

SCHUMACHER, MC ;

EMI, M ;

HEGELE, RM ;

HUNT, SC ;

LALOUEL, JM ;

WILLIAMS, RR .

ARTERIOSCLEROSIS AND THROMBOSIS, 1991, 11 (05) :1137-1146

[36] PCSK9: a convertase that coordinates LDL catabolism [J].

Horton, Jay D. ;

Cohen, Jonathan C. ;

Hobbs, Helen H. .

JOURNAL OF LIPID RESEARCH, 2009, 50 :S172-S177

[37] The contribution of classical risk factors to cardiovascular disease in familial hypercholesterolaemia: data in 2400 patients [J].

Jansen, ACM ;

van Aalst-Cohen, ES ;

Tanck, MW ;

Trip, MD ;

Lansberg, PJ ;

Liem, AH ;

van Lennep, HWOR ;

Sijbrands, EJG ;

Kastelein, JJP .

JOURNAL OF INTERNAL MEDICINE, 2004, 256 (06) :482-490

[38] Presence and type of low density lipoprotein receptor (LDLR) mutation influences the lipid profile and response to lipid-lowering therapy in Brazilian patients with heterozygous familial hypercholesterolemia [J].

Junior Lima Santos, Paulo Caleb ;

Morgan, Aline Cruz ;

Jannes, Cintia Elin ;

Turolla, Luciana ;

Krieger, Jose Eduardo ;

Santos, Raul D. ;

Pereira, Alexandre Costa .

ATHEROSCLEROSIS, 2014, 233 (01) :206-210

[39] Genetically Elevated Lipoprotein(a) and Increased Risk of Myocardial Infarction [J].

Kamstrup, Pia R. ;

Tybjaerg-Hansen, Anne ;

Steffensen, Rolf ;

Nordestgaard, Borge G. .

JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION, 2009, 301 (22) :2331-2339

[40] ODYSSEY FH I and FH II: 78 week results with alirocumab treatment in 735 patients with heterozygous familial hypercholesterolaemia [J].

Kastelein, John J. P. ;

Ginsberg, Henry N. ;

Langslet, Gisle ;

Hovingh, G. Kees ;

Ceska, Richard ;

Dufour, Robert ;

Blom, Dirk ;

Civeira, Fernando ;

Krempf, Michel ;

Lorenzato, Christelle ;

Zhao, Jian ;

Pordy, Robert ;

Baccara-Dinet, Marie T. ;

Gipe, Daniel A. ;

Geiger, Mary Jane ;

Farnier, Michel .

EUROPEAN HEART JOURNAL, 2015, 36 (43) :2996-3003

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