Global survey of genetic testing methods for familial hypercholesterolemia. A study and recommendations from the EAS FHSC registry.

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Title: Global survey of genetic testing methods for familial hypercholesterolemia. A study and recommendations from the EAS FHSC registry.
Authors: Chora JR; Unidade de Investigação e Desenvolvimento, Grupo de Investigação Cardiovascular, Departamento de Promoção da Saúde e Prevenção de Doenças Não Transmissíveis, Instituto Nacional de Saúde Doutor Ricardo Jorge, Lisbon, Portugal.; Biosystems & Integrative Sciences Institute (BioISI), Faculty of Sciences, University of Lisbon, Lisbon, Portugal.; Cardiovascular Centre of the University of Lisbon (CCUL), Faculty of Medicine, University of Lisbon, Lisbon, Portugal., Karungi I; Imperial Centre for Cardiovascular Disease Prevention, Department of Primary Care and Public Health, School of Public Health, Imperial College London, London, United Kingdom., Elshorbagy A; Imperial Centre for Cardiovascular Disease Prevention, Department of Primary Care and Public Health, School of Public Health, Imperial College London, London, United Kingdom.; Department of Physiology, Faculty of Medicine, University of Alexandria, Alexandria, Egypt., Stevens CAT; Imperial Centre for Cardiovascular Disease Prevention, Department of Primary Care and Public Health, School of Public Health, Imperial College London, London, United Kingdom., Vallejo-Vaz AJ; Imperial Centre for Cardiovascular Disease Prevention, Department of Primary Care and Public Health, School of Public Health, Imperial College London, London, United Kingdom.; Department of Medicine, Faculty of Medicine, University of Seville, Seville, Spain.; Clinical Epidemiology and Vascular Risk, Instituto de Biomedicina de Sevilla, IBiS/Hospital Universitario Virgen del Rocío/Universidad de Sevilla/CSIC, Seville, Spain.; Centro de Investigación Biomédica en Red (CIBER) de Epidemiología y Salud Pública, Instituto de Salud Carlos III, Spain., Dharmayat KI; Imperial Centre for Cardiovascular Disease Prevention, Department of Primary Care and Public Health, School of Public Health, Imperial College London, London, United Kingdom., Abifadel M; Laboratory of Biochemistry and Molecular Therapeutics, Faculty of Pharmacy, Saint Joseph University, Beirut, Lebanon., Aguilar-Salinas CA; Unidad de Investigación de Enfermedades Metabólicas, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Mexico City, México.; Tecnológico de Monterrey, Escuela de Medicina y Ciencias de la Salud, Monterrey, Mexico., Alhabib KF; Department of Cardiac Sciences, King Fahad Cardiac Centre, College of Medicine, King Saud University Medical City, King Saud University, Riyadh, Saudi Arabia., Almahmeed W; Cleveland Clinic Abu Dhabi, Heart and Vascular Institute, Abu Dhabi, United Arab Emirates., Alnouri F; Cardiovascular Prevention Unit, Adult Cardiology Department, Prince Sultan Cardiac Centre, Riyadh, Saudi Arabia., Alonso R; Centre for Advanced Metabolic Medicine and Nutrition, Santiago, Chile., Al-Rasadi K; Department of Biochemistry, College of Medicine and Health Science and Medical Research Centre, Sultan Qaboos University, Muscat, Oman., Al-Sarraf A; Sabah Al Ahmad Cardiac Centre, Kuwait City, Kuwait., Arca M; Department of Translational and Precision Medicine, Sapienza University of Rome, Rome, Italy.; AO Policlinico Umberto I, Rome, Italy., Ashaat EA; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt., Ashavaid TF; Department of Laboratory Medicine, P.D. Hinduja Hospital and Medical Research Centre Mahim, Mumbai, India., Averna M; Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties (PROMISE), Università degli Studi di Palermo, Palermo, Italy.; Institute of Biophysics (IBF), National Research Council (CNR), Palermo, Italy., Banach M; Department of Preventive Cardiology and Lipidology, Medical University of Lodz (MUL), Lodz, Poland.; Department of Cardiology and Congenital Diseases of Adults, Polish Mother's Memorial Hospital Research Institute (PMMHRI), Lodz, Poland.; Collegium Medicum, John Paul II Catholic University of Lublin, Lublin, Poland., Becker M; Department of Pediatric Endocrinology and Diabetology, Centre hospitalier de Luxembourg, Luxembourg City, Luxembourg., Binder CJ; Department of Laboratory Medicine, Medical University of Vienna, Vienna, Austria., Brunham LR; Departments of Medicine and Medical Genetics, Centre for Heart Lung Innovation, The University of British Columbia, Vancouver, Canada., Catapano AL; Department of Pharmacological and Biomolecular Sciences, University of Milan, Milan, Italy.; Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) MultiMedica, Sesto San Giovanni, Milan, Italy., Corral P; Pharmacology Department, FASTA University, School of Medicine, Mar del Plata, Argentina., Descamps OS; Centres Hospitaliers Universitaires HELORA at La Louvière and University of Mons, Mons, Belgium., Drogari E; First Department of Pediatrics, Unit of Inherited Metabolic Disorders and Inherited Dyslipidaemias, Choremio Research Institute, National and Kapodistrian University of Athens, Athens, Greece., Durst R; Cardiology Department and Centre for Treatment and Prevention of Atherosclerosis, Hadassah Hebrew University Medical Centre, Jerusalem, Israel., Ezhov M; National Medical Research Centre of Cardiology n.a. acad. E.I. Chazov, Ministry of Health of the Russian Federation, Moscow, Russia., Groselj U; Department of Endocrinology, Diabetes and Metabolism, University Medical Centre, University Children's Hospital Ljubljana, Ljubljana, Slovenia.; Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia., Harada-Shiba M; Osaka Medical and Pharmaceutical University, Takatsuki, Japan., Holven KB; Department of Nutrition, Medical faculty, University of Oslo, Norway and Norwegian National Network on Familial Hypercholesterolemia, Oslo University Hospital, Oslo, Norway., Hovingh GK; Department of Vascular Medicine, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.; Novo Nordisk, Soborg, Denmark., Khovidhunkit W; Department of Medicine, Faculty of Medicine, Chulalongkorn University and King Chulalongkorn Memorial Hospital, Bangkok, Thailand., Lalic K; Faculty of Medicine, Clinic for Endocrinology, Diabetes and Metabolic Diseases, University of Belgrade, Belgrade, Serbia., Latkovskis G; Faculty of Medicine and Life Sciences, Research Institute of Cardiology and Regenerative Medicine, University of Latvia, Pauls Stradins Clinical University Hospital, Riga, Latvia., Laufs U; Klinik und Poliklinik für Kardiologie, Universitätsklinikum Leipzig, Leipzig, Germany., Liberopoulos E; First Department of Propaedeutic and Internal Medicine, School of Medicine, National and Kapodistian University of Athens, Athens, Greece., Lin J; Beijing Institute of Heart, Lung and Blood Vessel Diseases, Beijing Anzhen Hospital, Capital Medical University, China., März W; DACH Society for the Prevention of Heart and Circulatory Diseases, Hamburg, Germany.; Medical Clinic III (Cardiology, Pneumology, Angiology), University of Heidelberg, Heidelberg, Germany.; Clinical Institute for Medical and Chemical Laboratory Diagnostics, Medical University of Graz, Graz, Austria.; Synlab Academy, Synlab Holding Deutschland GmbH, Mannheim and Augsburg, Germany., Mata P; Fundación Hipercolesterolemia Familiar, Madrid, Spain., Matthias AT; Department of Medicine, Faculty of Medical Sciences, University of Sri Jayewardenepura, Sri Lanka., Miserez AR; Diagene Research Institute, Breitenbach, Switzerland.; Swiss Society for Familial Forms of Hypercholesterolemia (SSFH), Breitenbach, Switzerland.; Faculty of Medicine, University of Basel, Basel, Switzerland., Mitchenko O; Department of Dyslipidaemia, Institute of Cardiology, National Academy of Medical Sciences, Kiev, Ukraine., Nawawi HM; Specialist Lipid Clinics, Hospital Al-Sultan Abdullah (HASA), Universiti Teknologi MARA (UiTM) Teaching Hospital, Puncak Alam, and Management & Science University (MSU), Shah Alam, Selangor, Malaysia., Nordestgaard BG; Copenhagen University Hospital - Herlev and Gentofte, University of Copenhagen, Copenhagen, Denmark., Panayiotou AG; Department of Rehabilitation Sciences, School of Health Sciences, Cyprus University of Technology, Limassol, Cyprus., Paragh G; Division of Metabolism, Department of Internal Medicine, Faculty of Medicine, University of Debrecen, Debrecen, Hungary., Petrulioniene Z; Vilnius University Faculty of Medicine and Vilnius University Hospital Santaros Klinikos, Vilnius, Lithuania., Postadzhiyan A; Medical University of Sofia, Sofia, Bulgaria., Reyes X; GENYCO Program, Comisión Honoraria para la Salud Cardiovascular, Montevideo, Uruguay., Sadiq F; Directorate of Research, Shifa Tameer-e-Millat University, Islamabad, Pakistan., Sahebkar A; Center for Global Health Research, Saveetha Institute of Medical and Technical Sciences, Saveetha Medical College and Hospitals, Saveetha University, Chennai, India.; Biotechnology Research Center, Pharmaceutical Technology Institute, Mashhad University of Medical Sciences, Mashhad, Iran., Santos RD; Heart Institute (InCor), University of São Paulo and Hospital Israelita Albert Einstein, São Paulo, Brazil., Sawhney JPS; Department of Cardiology, Sir Ganga Ram Hospital, New Delhi, India., Schunkert H; Clinic for Heart and Circulatory Diseases, German Heart Centre Munich, Technical University Munich, Munich, Germany.; German Centre for Cardiovascular Research, Partner Site Munich Heart Alliance, Munich, Germany., Shah SAV; Department of Laboratory Medicine, PD Hinduja Hospital and Medical Research Centre Mahim, Mumbai, India., Shek AB; Department of Coronary Heart Disease and Atherosclerosis, Republican Specialized Centre of Cardiology, Ministry of Health of Republic Uzbekistan, Tashkent, Uzbekistan., Soran H; NIHR/Wellcome Trust Clinical Research Facility, Manchester University NHS Foundation Trust, Manchester, UK., Su TC; Division of Cardiology, Department of Internal Medicine, Tungs' Taichung MetroHarbor Hospital, Taichung, Taiwan., Subramaniam T; Admiralty Medical Centre and Khoo Teck Puat Hospital, Yishun Health, Singapore., Tilney M; Lipid Clinic, Department of Medicine, Mater Dei Hospital, University of Malta, Msida, Malta., Tomlinson B; Faculty of Medicine, Macau University of Science and Technology, Macau, China., Truong TH; Faculty of Medicine, Phenikaa University, and Cardiovascular Center, Phenikaa University Hospital, Hanoi, Vietnam., Tybjærg-Hansen A; Department of Clinical Biochemistry, Copenhagen University Hospital - Rigshospitalet, , Copenhagen, Denmark.; Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark., Viigimaa M; North Estonia Medical Centre, Tallinn University of Technology, Tallinn, Estonia., Vohnout B; Department of Diabetology, LF SZU, Institute of Nutrition, FOaZOS, Coordination Centre for Familial Hyperlipidemias, Slovak Medical University in Bratislava, Bratislava, Slovakia., Watts GF; School of Medicine, University of Western Australia, Perth, WA, Australia.; Lipid Disorders Clinic, Cardiometabolic Service, Department of Cardiology, Royal Perth Hospital, Perth, WA, Australia., Yamashita S; Rinku General Medical Centre, Osaka, Japan., Ray KK; Imperial Centre for Cardiovascular Disease Prevention, Department of Primary Care and Public Health, School of Public Health, Imperial College London, London, United Kingdom., Raal FJ; Carbohydrate and Lipid Metabolism Research Unit, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa., Humphries SE; Institute of Cardiovascular Science, Faculty of Population Health, University College London, London, UK., Freiberger T; Centre for Cardiovascular Surgery and Transplantation, and Medical Faculty, Masaryk University, Brno, Czechia.; CarDia-National Institute for Metabolic and Cardiovascular Disease Research, Czechia., Bourbon M; Unidade de Investigação e Desenvolvimento, Grupo de Investigação Cardiovascular, Departamento de Promoção da Saúde e Prevenção de Doenças Não Transmissíveis, Instituto Nacional de Saúde Doutor Ricardo Jorge, Lisbon, Portugal.; Biosystems & Integrative Sciences Institute (BioISI), Faculty of Sciences, University of Lisbon, Lisbon, Portugal.; Cardiovascular Centre of the University of Lisbon (CCUL), Faculty of Medicine, University of Lisbon, Lisbon, Portugal.
Source: European journal of preventive cardiology [Eur J Prev Cardiol] 2026 May 14. Date of Electronic Publication: 2026 May 14.
Publication Type: Journal Article
Journal Info: Publisher: Oxford University Press Country of Publication: England NLM ID: 101564430 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2047-4881 (Electronic) Linking ISSN: 20474873 NLM ISO Abbreviation: Eur J Prev Cardiol Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:2047-4881
DOI:10.1093/eurjpc/zwag198