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

Autor:	Santos RD; Lipid Clinic Heart Institute (InCor), University of São Paulo Medical School Hospital, and Preventive Medicine Centre and Cardiology Program, Hospital Israelita Albert Einstein, São Paulo, Brazil. Electronic address: rdsf@uol.com.br., Gidding SS; Nemours Cardiac Center, A I DuPont Hospital for Children, Wilmington, DE, USA., Hegele RA; Department of Medicine and Robarts Research Institute, Schulich School of Medicine, Western University, London, ON, Canada., Cuchel MA; Division of Translational Medicine and Human Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., Barter PJ; School of Medical Sciences, University of New South Wales, Sydney, NSW, Australia., Watts GF; Lipid Disorders Clinic, Royal Perth Hospital, The University of Western Australia, Perth, WA, Australia., Baum SJ; Preventive Cardiology, Christine E Lynn Women's Health & Wellness Institute, Boca Raton Regional Hospital, Boca Raton, FL, USA., Catapano AL; Department of Pharmacological and Biomolecular Sciences, University of Milan, Milan, Italy; IRCCS Multimedica, Milan, Italy., Chapman MJ; Pitié-Sâlpetrière University Hospital, Paris, France., Defesche JC; University of Amsterdam, Academic Medical Center (AMC), Amsterdam, Netherlands., Folco E; International Atherosclerosis Society, Milan, Italy., Freiberger T; Molecular Genetics Lab, Centre for Cardiovascular Surgery and Transplantation, and Ceitec, Masaryk University, Brno, Czech Republic., Genest J; McGill University Health Center, Royal Victoria Hospital, Montreal, QC, Canada., Hovingh GK; University of Amsterdam, Academic Medical Center (AMC), Amsterdam, Netherlands., Harada-Shiba M; National Cerebral and Cardiovascular Center Research Institute, Suita, Osaka, Japan., Humphries SE; Centre for Cardiovascular Genetics, Institute of Cardiovascular Science, University College of London, London, UK., Jackson AS; International Atherosclerosis Society, Houston, TX, USA., Mata P; Fundación Hipercolesterolemia Familiar, Madrid, Spain., Moriarty PM; Atherosclerosis and Lipoprotein-Apheresis Center, University of Kansas Medical Center, Kansas City, KS, USA., Raal FJ; Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa., Al-Rasadi K; Sultan Qaboos University Hospital, Muscat, Oman., Ray KK; School of Public Health, Imperial College London, London, UK., Reiner Z; European Association for Cardiovascular Prevention and Rehabilitations, Zagreb, Croatia., Sijbrands EJ; Department of Internal Medicine, Erasmus MC, Rotterdam, Netherlands., Yamashita S; Osaka University Graduate School of Medicine, Suita, Osaka, Japan.
Jazyk:	angličtina
Zdroj:	The lancet. Diabetes & endocrinology [Lancet Diabetes Endocrinol] 2016 Oct; Vol. 4 (10), pp. 850-61. Date of Electronic Publication: 2016 May 27.
DOI:	10.1016/S2213-8587(16)30041-9
Abstrakt:	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. (Copyright © 2016 Elsevier Ltd. All rights reserved.)
Databáze:	MEDLINE
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