Santos, RD;
Gidding, SS;
Hegele, RA;
Cuchel, MA;
Barter, PJ;
Watts, GF;
Baum, SJ;
... Yamashita, S; + view all
(2016)
Defining severe familial hypercholesterolaemia and the implications for clinical management: a consensus statement from the International Atherosclerosis Society Severe Familial Hypercholesterolemia Panel.
Lancet Diabetes & Endocrinology
, 4
(10)
pp. 850-861.
10.1016/S2213-8587(16)30041-9.
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Abstract
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.
| Type: | Article |
|---|---|
| Title: | Defining severe familial hypercholesterolaemia and the implications for clinical management: a consensus statement from the International Atherosclerosis Society Severe Familial Hypercholesterolemia Panel |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.1016/S2213-8587(16)30041-9 |
| Publisher version: | http://doi.org/10.1016/S2213-8587(16)30041-9 |
| Language: | English |
| Additional information: | © 2016 Elsevier Ltd. All rights reserved. This manuscript version is made available under a Creative Commons Attribution Non-commercial Non-derivative 4.0 International license (CC BY-NC-ND 4.0). This license allows you to share, copy, distribute and transmit the work for personal and non-commercial use providing author and publisher attribution is clearly stated. Further details about CC BY licenses are available at https://creativecommons.org/licenses/. Access may be initially restricted by the publisher. |
| Keywords: | Science & Technology, Life Sciences & Biomedicine, Endocrinology & Metabolism, 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 |
| UCL classification: | UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > Institute of Cardiovascular Science |
| URI: | https://discovery.ucl.ac.uk/id/eprint/1545141 |
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