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.

Atherosclerosis and Lipoprotein Apheresis Center University of Kansas Medical Center Kansas City KS USA

Centre for Cardiovascular Genetics Institute of Cardiovascular Science University College of London London UK

Department of Internal Medicine Erasmus MC Rotterdam Netherlands

Department of Medicine and Robarts Research Institute Schulich School of Medicine Western University London ON Canada

Department of Pharmacological and Biomolecular Sciences University of Milan Milan Italy; IRCCS Multimedica Milan Italy

Division of Translational Medicine and Human Genetics Perelman School of Medicine University of Pennsylvania Philadelphia PA USA

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 Clinic Heart Institute University of São Paulo Medical School Hospital and Preventive Medicine Centre and Cardiology Program Hospital Israelita Albert Einstein São Paulo Brazil

Lipid Disorders Clinic Royal Perth Hospital The University of Western Australia Perth WA Australia

McGill University Health Center Royal Victoria Hospital Montreal QC Canada

Molecular Genetics Lab Centre for Cardiovascular Surgery and Transplantation and Ceitec Masaryk University Brno Czech Republic

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

Preventive Cardiology Christine E Lynn Women's Health and Wellness Institute Boca Raton Regional Hospital Boca Raton FL USA

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

Lancet Diabetes Endocrinol. 2016 Aug;4(8):e8. doi: 10.1016/S2213-8587(16)30150-4. PubMed

Citace poskytuje Crossref.org

Reporting LDL cholesterol results by clinical biochemistry laboratories in Czechia and Slovakia to improve the detection rate of familial hypercholesterolemia