Pooling and expanding registries of familial hypercholesterolaemia to assess gaps in care and improve disease management and outcomes: Rationale and design of the global EAS Familial Hypercholesterolaemia Studies Collaboration.

Autor: Vallejo-Vaz AJ; Imperial Centre for Cardiovascular Disease Prevention (ICCP), School of Public Health, Imperial College London, London, UK. Electronic address: a.vallejo-vaz@imperial.ac.uk., Akram A; Global eHealth Unit, School of Public Health, Imperial College London, London, UK; Centre for Population Health Sciences, Lee Kong Chian School of Medicine, Nanyang Technological University, Singapore., Kondapally Seshasai SR; Cardiovascular and Cell Sciences Research Institute, St George's, University of London, London, UK., Cole D; Cardiovascular and Cell Sciences Research Institute, St George's, University of London, London, UK., Watts GF; Cardiovascular Medicine, Royal Perth Hospital, University of Western Australia, Perth, Australia., Hovingh GK; Department of Vascular Medicine, Academic Medical Centre, Amsterdam, The Netherlands., Kastelein JJ; Department of Vascular Medicine, Academic Medical Centre, Amsterdam, The Netherlands., Mata P; Fundación Hipercolesterolemia Familiar, Madrid, Spain., Raal FJ; Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa., Santos RD; Heart Institute (InCor), University of São Paulo Medical School Hospital, São Paulo, Brazil., Soran H; University Department of Medicine, Central Manchester University Hospitals, Manchester, UK., Freiberger T; Centre for Cardiovascular Surgery and Transplantation, Brno, Czech Republic; Ceitec, Masaryk University, Brno, Czech Republic., Abifadel M; Laboratory of Biochemistry and Molecular Therapeutics, Faculty of Pharmacy, Saint-Joseph University, Beirut, Lebanon., Aguilar-Salinas CA; Instituto Nacional de Ciencias Médicas y Nutrición, Mexico City, Mexico., Alnouri F; Cardiovascular Prevention and Rehabilitation Unit, Prince Sultan Cardiac Centre Riyadh, Riyadh, Saudi Arabia., Alonso R; Lipid Clinic, Department of Nutrition, Clínica Las Condes, Santiago de Chile, Chile., Al-Rasadi K; Sultan Qaboos University Hospital, Muscat, Oman., Banach M; Department of Hypertension, Medical University of Lodz, Lodz, Poland., Bogsrud MP; National Advisory Unit on Familial Hypercholesterolemia, Oslo University Hospital, Norway., Bourbon M; Instituto Nacional de Saúde Doutor Ricardo Jorge and Biosystems & Integrative Sciences Institute (BioISI), Universidade de Lisboa, Portugal., Bruckert E; Endocrinologie, métabolisme et prévention cardiovasculaire, Institut E3M et IHU cardiométabolique (ICAN), Hôpital Pitié-Salpêtrière, Paris, France., Car J; Global eHealth Unit, School of Public Health, Imperial College London, London, UK; Centre for Population Health Sciences, Lee Kong Chian School of Medicine, Nanyang Technological University, Singapore., Ceska R; Charles University in Prague, Prague, Czech Republic., Corral P; FASTA University, School of Medicine, Mar del Plata, Argentina., Descamps O; Centres Hospitaliers Jolimont, Haine Saint-Paul, Belgium., Dieplinger H; Austrian Atherosclerosis Society, c/o Division of Genetic Epidemiology, Medical University of Innsbruck, Innsbruck, Austria., Do CT; Vietnam Heart Institute, Bach Mai Hospital, Hanoi, Viet Nam., Durst R; Hadassah Hebrew University Medical Centre, Jerusalem, Israel., Ezhov MV; Russian Cardiology Research and Production Centre, Moscow, Russia., Fras Z; University Medical Centre Ljubljana, Division of Medicine, Preventive Cardiology Unit, Ljubljana, Slovenia; Medical Faculty, University of Ljubljana, Ljubljana, Slovenia., Gaita D; Universitatea de Medicina si Farmacie Victor Babes din Timisoara, Romania., Gaspar IM; Medical Genetics Department, Centro Hospitalar de Lisboa Ocidental and Genetics Laboratory, Lisbon Medical School, University of Lisbon, Portugal., Genest J; McGill University, Montreal, Canada., Harada-Shiba M; National Cerebral and Cardiovascular Centre Research Institute, Osaka, Japan., Jiang L; National Clinical Research Centre of Cardiovascular Diseases, Fuwai Hospital, National Centre for Cardiovascular Diseases, Beijing, China., Kayikcioglu M; Ege University Medical School, Department of Cardiology, Izmir, Turkey., Lam CS; National Heart Centre Singapore and Duke-National University of Singapore, Singapore., Latkovskis G; Research Institute of Cardiology and Regenerative Therapy, Faculty of Medicine, University of Latvia, Paul Stradins Clinical University Hospital, Riga, Latvia., Laufs U; Universität des Saarlandes, Homburg, Germany., Liberopoulos E; University of Ioannina Medical School, Ioannina, Greece., Lin J; Beijing Institute of Heart, Lung and Blood Vessel Diseases, Beijing Anzhen Hospital, Capital Medical University, Beijing, China., Lin N; Imperial Centre for Cardiovascular Disease Prevention (ICCP), School of Public Health, Imperial College London, London, UK., Maher V; Tallaght Hospital, Ireland., Majano N; Hospital Militar de Caracas, Caracas, Venezuela., Marais AD; University of Cape Town and National Health Laboratory Service, South Africa., März W; Medical Clinic V (Nephrology, Hypertensiology, Rheumatology, Endocrinology, Diabetology), Medical Faculty Mannheim, University of Heidelberg, Germany., Mirrakhimov E; Kyrgyz State Medical Academy, Kyrgyzstan., Miserez AR; Diagene GmbH, Research Institute, Reinach, Switzerland; Faculty of Medicine, University of Basel, Basel, Switzerland., Mitchenko O; Dyslipidaemia Department, Institute of Cardiology AMS of Ukraine, Ukraine., Nawawi H; Institute of Pathology, Laboratory and Forensic Medicine (I-PPerForM) and Faculty of Medicine, Universiti Teknologi MARA, Malaysia., Nilsson L; Department of Medical and Health Sciences, Linköping University, Linköping, Sweden., Nordestgaard BG; Herlev and Gentofte Hospital, Copenhagen University Hospital, University of Copenhagen, Copenhagen, Denmark., Paragh G; Institute of Internal Medicine, Faculty of Medicine, University of Debrecen, Hungary., Petrulioniene Z; Vilnius University Santariskiu Hospital, Centre of Cardiology and Angiology, Vilnius, Lithuania., Pojskic B; Cantonal Hospital, Zenica, Bosnia and Herzegovina., Reiner Ž; Department for Metabolic Diseases, University Hospital Centre Zagreb, School of Medicine, University of Zagreb, Croatia., Sahebkar A; Biotechnology Research Centre, Mashhad University of Medical Sciences, Mashhad, Iran., Santos LE; Cardinal Santos Medical Centre, University of the Philippines - Philippine General Hospital (UP-PGH), Philippines., Schunkert H; Deutsches Herzzentrum München, Technische Universität München, Deutsches Zentrum für Herz- und Kreislauferkrankungen (DZHK), Munich Heart Alliance, Germany., Shehab A; CMHS, UAE University, AlAin, United Arab Emirates., Slimane MN; Research Unit on Dyslipidaemia and Atherosclerosis, Faculty of Medicine of Monastir, Tunisia., Stoll M; Cardiovascular Genetic Laboratory, Cardiovascular Health Commission, Montevideo, Uruguay., Su TC; Department of Internal Medicine and Cardiovascular Centre, National Taiwan University Hospital, Taipei, Taiwan., Susekov A; Department of Clinical Pharmacology and Therapeutics, Russian Medical Academy of Postgraduate Education, Ministry of Health of Russian Federation, Russia., Tilney M; Faculty of Medicine & Surgery, Medical School, Mater Dei Hospital, University of Malta, Malta., Tomlinson B; Department of Medicine and Therapeutics, The Chinese University of Hong Kong, Hong Kong Special Administrative Region., Tselepis AD; Atherothrombosis Research Centre, University of Ioannina, Ioannina, Greece., Vohnout B; Coordination Centre for Familial Hyperlipoproteinemias, Institute of Nutrition, FOZOS, Slovak Medical University, Department of Epidemiology, School of Medicine, Comenius University, Bratislava, Slovakia., Widén E; Institute for Molecular Medicine Finland FIMM, University of Helsinki, Helsinki, Finland., Yamashita S; Rinku General Medical Centre and Osaka University Graduate School of Medicine, Osaka, Japan., Catapano AL; University of Milan and Multimedica IRCCS, Milan, Italy., Ray KK; Imperial Centre for Cardiovascular Disease Prevention (ICCP), School of Public Health, Imperial College London, London, UK.
Jazyk: angličtina
Zdroj: Atherosclerosis. Supplements [Atheroscler Suppl] 2016 Dec; Vol. 22, pp. 1-32. Date of Electronic Publication: 2016 Dec 07.
DOI: 10.1016/j.atherosclerosissup.2016.10.001
Abstrakt: Background: The potential for global collaborations to better inform public health policy regarding major non-communicable diseases has been successfully demonstrated by several large-scale international consortia. However, the true public health impact of familial hypercholesterolaemia (FH), a common genetic disorder associated with premature cardiovascular disease, is yet to be reliably ascertained using similar approaches. The European Atherosclerosis Society FH Studies Collaboration (EAS FHSC) is a new initiative of international stakeholders which will help establish a global FH registry to generate large-scale, robust data on the burden of FH worldwide.
Methods: The EAS FHSC will maximise the potential exploitation of currently available and future FH data (retrospective and prospective) by bringing together regional/national/international data sources with access to individuals with a clinical and/or genetic diagnosis of heterozygous or homozygous FH. A novel bespoke electronic platform and FH Data Warehouse will be developed to allow secure data sharing, validation, cleaning, pooling, harmonisation and analysis irrespective of the source or format. Standard statistical procedures will allow us to investigate cross-sectional associations, patterns of real-world practice, trends over time, and analyse risk and outcomes (e.g. cardiovascular outcomes, all-cause death), accounting for potential confounders and subgroup effects.
Conclusions: The EAS FHSC represents an excellent opportunity to integrate individual efforts across the world to tackle the global burden of FH. The information garnered from the registry will help reduce gaps in knowledge, inform best practices, assist in clinical trials design, support clinical guidelines and policies development, and ultimately improve the care of FH patients.
(Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.)
Databáze: MEDLINE
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