Apheresis Research Institute Cologne Germany; 1st Department of Internal Medicine University of Mainz Mainz Germany

Blood Bank and Apheresis Unit Rambam Health Care Campus and The Ruth and Bruce Rappaport Faculty of Medicine Technion Israel Institute of Technology Haifa Israel

Carbohydrate and Lipid Metabolism Research Unit Faculty of Health Sciences University of Witwatersrand Johannesburg South Africa

Cardiovascular Center Osaka Medical and Pharmaceutical University Takatsuki Japan

Cardiovascular Prevention Unit Department of Adult Cardiology Prince Sultan Cardiac Centre Riyadh Saudi Arabia

Centre for Cardiovascular Surgery and Transplantation and Medical Faculty Masaryk University Brno Czech Republic

Centre for Heart Lung Innovation Department of Medicine St Paul's Hospital Providence Health Care University of British Columbia Vancouver British Columbia Canada

Department of Cardiology Erasmus MC Cardiovascular Institute University Medical Center Rotterdam Rotterdam the Netherlands

Department of Cardiology Hanoi Medical University Hanoi Vietnam

Department of Internal Medicine Erasmus MC Cardiovascular Institute University Medical Center Rotterdam Rotterdam the Netherlands

Department of Medicine Division of Lipidology and Cape Heart Institute University of Cape Town Cape Town South Africa

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

Department of Pediatrics Amsterdam University Medical Centers Location Academic Medical Center Amsterdam the Netherlands

Department of Vascular Medicine Amsterdam University Medical Centers Location Academic Medical Center Amsterdam the Netherlands

Directorate of Research Shifa Tameer e Millat University Islamabad Pakistan

Ege University Medical Faculty Department of Cardiology Bornova Izmir Turkey

Faculty of Medicine Phenikaa University and Vietnam Atherosclerosis Society Hanoi City Vietnam

IRCCS MultiMedica Sesto San Giovanni and Department of Pharmacological and Biomolecular Sciences University of Milan Milan Italy

Unitat de Medicina Vascular i Metabolisme Hospital Universitari Sant Joan IISPV CIBERDEM Universitat Rovira i Virgili Reus Spain

University of Ljubljana Faculty of Medicine and UMC University Children's Hospital Ljubljana Ljubljana Slovenia

Zobrazit více v PubMed

Cuchel M, Raal FJ, Hegele RA et al. 2023 Update on European Atherosclerosis Society Consensus Statement on Homozygous Familial Hypercholesterolaemia: new treatments and clinical guidance. Eur Heart J 2023. PubMed PMC

Tromp TR, Hartgers ML, Hovingh GK et al. Worldwide experience of homozygous familial hypercholesterolaemia: retrospective cohort study. Lancet 2022;399:719–728. PubMed PMC

Bruckert E, Kalmykova O, Bittar R et al. Long-term outcome in 53 patients with homozygous familial hypercholesterolaemia in a single centre in France. Atherosclerosis 2017;257:130–137. PubMed

Thompson GR, Blom DJ, Marais AD, Seed M, Pilcher GJ, Raal FJ. Survival in homozygous familial hypercholesterolaemia is determined by the on-treatment level of serum cholesterol. Eur Heart J 2018;39:1162–1168. PubMed

Berberich AJ, Hegele RA. The complex molecular genetics of familial hypercholesterolaemia. Nat Rev Cardiol 2019;16:9–20. PubMed

Sturm AC, Knowles JW, Gidding SS et al. Clinical Genetic Testing for Familial Hypercholesterolemia: JACC Scientific Expert Panel. J Am Coll Cardiol 2018;72:662–680. PubMed

Mulder J, Tromp TR, Al-Khnifsawi M et al. Sex Differences in Diagnosis, Treatment, and Cardiovascular Outcomes in Homozygous Familial Hypercholesterolemia. JAMA Cardiol 2024. PubMed PMC

Kramer AI, Akioyamen LE, Lee S et al. Major adverse cardiovascular events in homozygous familial hypercholesterolaemia: a systematic review and meta-analysis. Eur J Prev Cardiol 2022;29:817–828. PubMed

Gu J, Kuznik A, Quon P, Chauhan A, Sravya TS, Raal FJ. Modelling the potential long-term survival benefit of evinacumab treatment vs. standard of care in patients with homozygous familial hypercholesterolaemia. Eur J Prev Cardiol 2023;30:1874–1880. PubMed

Leipold R, Raal F, Ishak J, Hovingh K, Phillips H. The effect of lomitapide on cardiovascular outcome measures in homozygous familial hypercholesterolemia: A modelling analysis. Eur J Prev Cardiol 2017;24:1843–1850. PubMed