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Title: Global perspective of familial hypercholesterolaemia: a cross-sectional study from the EAS Familial Hypercholesterolaemia Studies Collaboration (FHSC)
Authors: Vallejo-Vaz, Antonio J. 
Stevens, Christophe A.T. 
Lyons, Alexander R.M. 
Dharmayat, Kanika I. 
Freiberger, Tomas 
Hovingh, Kees G. 
Mata, Pedro 
Raal, Frederick J. 
Santos, Raul D. 
Soran, Handrean 
Watts, Gerald F. 
Abifadel, Marianne 
Aguilar-Salinas, Carlos A. 
Alhabib, Khalid F. 
Al-Khnifsawi, Mutaz 
Almahmeed, Wael 
Alnouri, Fahad 
Alonso, Rodrigo 
Al-Rasadi, Khalid 
Al-Sarraf, Ahmad 
Al-Sayed, Nasreen 
Araujo, Francisco 
Ashavaid, Tester F. 
Banach, Maciej 
Béliard, Sophie 
Benn, Marianne 
Binder, Christoph J. 
Bogsrud, Martin P. 
Bourbon, Mafalda 
Chlebus, Krzysztof 
Corral, Pablo 
Davletov, Kairat 
Descamps, Olivier S. 
Durst, Ronen 
Ezhov, Marat 
Gaita, Dan 
Genest, Jacques 
Groselj, Urh 
Harada-Shiba, Mariko 
Holven, Kirsten B. 
Kayikcioglu, Meral 
Khovidhunkit, Weerapan 
Lalic, Katarina 
Latkovskis, Gustavs 
Laufs, Ulrich 
Liberopoulos, Evangelos 
Lima-Martínez, Marcos M. 
Lin, Jie 
Maher, Vincent 
Marais, David A. 
März, Winfried 
Mirrakhimov, Erkin 
Miserez, André R. 
Mitchenko, Olena 
Nawawi, Hapizah M. 
Nordestgaard, Børge G. 
Panayiotou, Andrie G. 
Paragh, György 
Petrulioniene, Zaneta 
Pojskic, Belma 
Postadzhiyan, Arman 
Raslova, Katarina 
Reda, Ashraf 
Reiner, Željko 
Sadiq, Fouzia 
Sadoh, Wilson Ehidiamen 
Schunkert, Heribert 
Shek, Aleksandr B. 
Stoll, Mario 
Stroes, Erik 
Su, Ta-Chen 
Subramaniam, Tavintharan 
Susekov, Andrey V. 
Tilney, Myra 
Tomlinson, Brian 
Truong, Thanh-Huong 
Tselepis, Alexandros D. 
Tybjærg-Hansen, Anne 
Vázquez-Cárdenas, Alejandra 
Viigimaa, Margus 
Wang, Luya 
Tokgözoğlu, Lale 
Catapano, Alberico L. 
Ray, Kausik K. 
Major Field of Science: Medical and Health Sciences
Field Category: Health Sciences
Keywords: Familial hypercholesterolaemia;FHSC global registry data;Antibodies;Monoclonal;Humanized;Anticholesteremic Agents;Cholesterol, LDL;Coronary Disease;Heart Disease Risk Factors;Hydroxymethylglutaryl-CoA Reductase Inhibitors
Issue Date: Nov-2021
Source: The Lancet, 2021, vol. 398, no. 10312, pp. 1713-1725
Volume: 398
Issue: 10312
Start page: 1713
End page: 1725
Journal: The Lancet 
Abstract: Background: The European Atherosclerosis Society Familial Hypercholesterolaemia Studies Collaboration (FHSC) global registry provides a platform for the global surveillance of familial hypercholesterolaemia through harmonisation and pooling of multinational data. In this study, we aimed to characterise the adult population with heterozygous familial hypercholesterolaemia and described how it is detected and managed globally. Methods: Using FHSC global registry data, we did a cross-sectional assessment of adults (aged 18 years or older) with a clinical or genetic diagnosis of probable or definite heterozygous familial hypercholesterolaemia at the time they were entered into the registries. Data were assessed overall and by WHO regions, sex, and index versus non-index cases. Findings: Of the 61 612 individuals in the registry, 42 167 adults (21 999 [53·6%] women) from 56 countries were included in the study. Of these, 31 798 (75·4%) were diagnosed with the Dutch Lipid Clinic Network criteria, and 35 490 (84·2%) were from the WHO region of Europe. Median age of participants at entry in the registry was 46·2 years (IQR 34·3–58·0); median age at diagnosis of familial hypercholesterolaemia was 44·4 years (32·5–56·5), with 40·2% of participants younger than 40 years when diagnosed. Prevalence of cardiovascular risk factors increased progressively with age and varied by WHO region. Prevalence of coronary disease was 17·4% (2·1% for stroke and 5·2% for peripheral artery disease), increasing with concentrations of untreated LDL cholesterol, and was about two times lower in women than in men. Among patients receiving lipid-lowering medications, 16 803 (81·1%) were receiving statins and 3691 (21·2%) were on combination therapy, with greater use of more potent lipid-lowering medication in men than in women. Median LDL cholesterol was 5·43 mmol/L (IQR 4·32–6·72) among patients not taking lipid-lowering medications and 4·23 mmol/L (3·20–5·66) among those taking them. Among patients taking lipid-lowering medications, 2·7% had LDL cholesterol lower than 1·8 mmol/L; the use of combination therapy, particularly with three drugs and with proprotein convertase subtilisin–kexin type 9 inhibitors, was associated with a higher proportion and greater odds of having LDL cholesterol lower than 1·8 mmol/L. Compared with index cases, patients who were non-index cases were younger, with lower LDL cholesterol and lower prevalence of cardiovascular risk factors and cardiovascular diseases (all p<0·001). Interpretation: Familial hypercholesterolaemia is diagnosed late. Guideline-recommended LDL cholesterol concentrations are infrequently achieved with single-drug therapy. Cardiovascular risk factors and presence of coronary disease were lower among non-index cases, who were diagnosed earlier. Earlier detection and greater use of combination therapies are required to reduce the global burden of familial hypercholesterolaemia. Funding: Pfizer, Amgen, Merck Sharp & Dohme, Sanofi–Aventis, Daiichi Sankyo, and Regeneron.
ISSN: 0140-6736
DOI: 10.1016/S0140-6736(21)01122-3
Rights: © Elsevier
Type: Article
Affiliation : Imperial College London 
Masaryk University 
Academic Medical Centre 
Fundación Hipercolesterolemia Familiar 
University of the Witwatersrand 
University of Sao Paulo 
Manchester University Hospitals NHS Foundation Trust 
University of Western Australia 
Royal Perth Hospital 
Saint Joseph University 
Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán 
Tecnológico de Monterrey 
King Saud University 
University of Al-Qadisiyah 
Cleveland Clinic Abu Dhabi 
Prince Sultan Cardiac Centre Riyadh 
Center for Advanced Metabolic Medicine and Nutrition 
Sultan Qaboos University 
Sabah Al Ahmad Cardiac Centre 
Gulf Diabetes and Endocrine Centre 
Portuguese Atherosclerosis Society 
P. D Hinduja National Hospital and Medical Research Centre 
Medical University of Lodz 
Polish Mother’s Memorial Hospital Research Institute 
University of Zielona Góra 
Hôpital de la Conception and Centre de Recherche en Cardiovasculaire et Nutrition 
Aix-Marseille University 
University of Copenhagen 
Medical University of Vienna 
Oslo University Hospital 
Instituto Nacional de Saude Doutor Ricardo Jorge 
University of Lisbon 
Medical University of Gdansk 
FASTA University 
Al-Farabi Kazakh National University 
Centre de Recherche Médicale de Jolimont 
Hadassah Hebrew University Medical Center 
Ministry of Health of the Russian Federation 
Universitatea de Medicina si Farmacie Victor Babes din Timisoara 
McGill University 
Ljubljana University Medical Centre 
University of Ljubljana 
National Cerebral and Cardiovascular Centre Research Institute 
Ege University 
Chulalongkorn University 
King Chulalongkorn Memorial Hospital 
University of Belgrade 
University of Latvia 
Universitätsklinikum Leipzig 
University of Ioannina 
Universidad de Oriente 
Capital Medical University 
Tallaght University Hospital 
University of Cape Town 
DACH Society for the Prevention of Heart and Circulatory Diseases 
Heidelberg University 
Medizinische Universität Graz 
Synlab Akademie 
Kyrgyz State Medical Academy 
Swiss Society for Familial Forms of Hypercholesterolemia 
University of Basel 
Institute of Cardiology, National Academy of Medical Sciences Kiev 
Medicine Universiti Teknologi MARA 
Cyprus University of Technology 
University of Debrecen 
Vilnius University 
Cantonal Hospital Zenica 
Medical University of Sofia 
University of Bratislava 
Menoufia University 
University of Zagreb 
Shifa Tameer-e-Millat University 
University of Benin Teaching Hospital 
Technical University Munich 
German Center for Cardiovascular Research 
Ministry of Health of Republic Uzbekistan 
Comisión Nacional de Salud Cardiovascular Montevideo 
National Taiwan University Hospital 
Admiralty Medical Centre 
Ministry of Health of the Russian Federation 
Mater Dei Hospital 
University of Malta 
Macau University of Science and Technology 
Hanoi Medical University 
Universidad Autónoma de Guadalajara 
Tallinn University of Technology 
Beijing Anzhen Hospital 
Rinku General Medical Centre 
Hacettepe University 
University of Milan 
Istituto di Ricovero e Cura a Carattere Scientifico 
Khoo Teck Puat Hospital 
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