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

[41] Longitudinal Evaluation and Assessment of Cardiovascular Disease in Patients With Homozygous Familial Hypercholesterolemia [J].

Kolansky, Daniel M. ;

Cuchel, Marina ;

Clark, Bernard J. ;

Paridon, Steve ;

McCrindle, Brian W. ;

Wiegers, Susan E. ;

Araujo, Luis ;

Vohra, Yogesh ;

Defesche, Joep C. ;

Wilson, James M. ;

Rader, Daniel J. .

AMERICAN JOURNAL OF CARDIOLOGY, 2008, 102 (11) :1438-1443

[42] Lipoprotein(a) in homozygous familial hypercholesterolemia [J].

Kraft, HG ;

Lingenhel, A ;

Raal, FJ ;

Hohenegger, M ;

Utermann, G .

ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY, 2000, 20 (02) :522-528

[43] Prevalence and clinical correlates of familial hypercholesterolemia founder mutations in the general population [J].

Lahtinen, Annukka M. ;

Havulinna, Aki S. ;

Jula, Antti ;

Salomaa, Veikko ;

Kontula, Kimmo .

ATHEROSCLEROSIS, 2015, 238 (01) :64-69

[44] Genetic and Metabolic Determinants of Plasma PCSK9 Levels [J].

Lakoski, Susan G. ;

Lagace, Thomas A. ;

Cohen, Jonathan C. ;

Horton, Jay D. ;

Hobbs, Helen H. .

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2009, 94 (07) :2537-2543

[45] High lipoprotein(a) as a possible cause of clinical familial hypercholesterolaemia: a prospective cohort study [J].

Langsted, Anne ;

Kamstrup, Pia R. ;

Benn, Marianne ;

Tybjaerg-Hansen, Anne ;

Nordestgaard, Borge G. .

LANCET DIABETES & ENDOCRINOLOGY, 2016, 4 (07) :577-587

[46] Long-term efficacy of low density lipoprotein apheresis on coronary heart disease in familial hypercholesterolemia [J].

Mabuchi, H ;

Koizumi, J ;

Shimizu, M ;

Kajinami, K ;

Miyamoto, S ;

Ueda, K ;

Takegoshi, T .

AMERICAN JOURNAL OF CARDIOLOGY, 1998, 82 (12) :1489-1495

[47] 10-Year Coronary Heart Disease Risk Prediction Using Coronary Artery Calcium and Traditional Risk Factors Derivation in the MESA (Multi-Ethnic Study of Atherosclerosis) With Validation in the HNR (Heinz Nixdorf Recall) Study and the DHS (Dallas Heart Study) [J].

McClelland, Robyn L. ;

Jorgensen, Neal W. ;

Budoff, Matthew ;

Blaha, Michael J. ;

Post, Wendy S. ;

Kronmal, Richard A. ;

Bild, Diane E. ;

Shea, Steven ;

Liu, Kiang ;

Watson, Karol E. ;

Folsom, Aaron R. ;

Khera, Amit ;

Ayers, Colby ;

Mahabadi, Amir-Abbas ;

Lehmann, Nils ;

Joeckel, Karl-Heinz ;

Moebus, Susanne ;

Carr, J. Jeffrey ;

Erbel, Raimund ;

Burke, Gregory L. .

JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY, 2015, 66 (15) :1643-1653

[48] Lipid Control in the Modern Era An Orphan's Tale of Rags to Riches [J].

Milani, Richard V. ;

Lavie, Carl J. .

JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY, 2013, 62 (23) :2185-2187

[49] Evaluation of subclinical atherosclerosis by computed tomography coronary angiography and its association with risk factors in familial hypercholesterolemia [J].

Miname, Marcio H. ;

Ribeiro, Mario S., II ;

Parga Filho, Jose ;

Avila, Luis F. ;

Bortolotto, Luiz A. ;

Martinez, Lilton R. C. ;

Rochitte, Carlos E. ;

Santos, Raul D. .

ATHEROSCLEROSIS, 2010, 213 (02) :486-491

[50] MUTATIONS OF LOW-DENSITY-LIPOPROTEIN-RECEPTOR GENE, VARIATION IN PLASMA-CHOLESTEROL, AND EXPRESSION OF CORONARY HEART-DISEASE IN HOMOZYGOUS FAMILIAL HYPERCHOLESTEROLEMIA [J].

MOORJANI, S ;

ROY, M ;

TORRES, A ;

BETARD, C ;

GAGNE, C ;

LAMBERT, M ;

BRUN, D ;

DAVIGNON, J ;

LUPIEN, P .

LANCET, 1993, 341 (8856) :1303-1306

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