Defining severe familial hypercholesterolaemia and the implications for clinical management: a consensus statement from the International Atherosclerosis Society Severe Familial Hypercholesterolemia Panel
Language English Country England, Great Britain Media print-electronic
Document type Journal Article, Review, Research Support, Non-U.S. Gov't
Grant support
RG/08/008/25291
British Heart Foundation - United Kingdom
PubMed
27246162
DOI
10.1016/s2213-8587(16)30041-9
PII: S2213-8587(16)30041-9
Knihovny.cz E-resources
- MeSH
- Hyperlipoproteinemia Type II complications epidemiology therapy MeSH
- Cardiovascular Diseases epidemiology etiology MeSH
- Cholesterol, LDL blood MeSH
- Humans MeSH
- Risk Factors MeSH
- Practice Guidelines as Topic MeSH
- Societies, Medical MeSH
- Check Tag
- Humans MeSH
- Male MeSH
- Female MeSH
- Publication type
- Journal Article MeSH
- Research Support, Non-U.S. Gov't MeSH
- Review MeSH
- Names of Substances
- Cholesterol, LDL MeSH
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.
Department of Internal Medicine Erasmus MC Rotterdam Netherlands
European Association for Cardiovascular Prevention and Rehabilitations Zagreb Croatia
Faculty of Health Sciences University of the Witwatersrand Johannesburg South Africa
Fundación Hipercolesterolemia Familiar Madrid Spain
International Atherosclerosis Society Houston TX USA
International Atherosclerosis Society Milan Italy
Lipid Disorders Clinic Royal Perth Hospital The University of Western Australia Perth WA Australia
McGill University Health Center Royal Victoria Hospital Montreal QC Canada
National Cerebral and Cardiovascular Center Research Institute Suita Osaka Japan
Nemours Cardiac Center A 1 DuPont Hospital for Children Wilmington DE USA
Osaka University Graduate School of Medicine Suita Osaka Japan
Pitié Sâlpetrière University Hospital Paris France
School of Medical Sciences University of New South Wales Sydney NSW Australia
School of Public Health Imperial College London London UK
Sultan Qaboos University Hospital Muscat Oman
University of Amsterdam Academic Medical Center Amsterdam Netherlands
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