title: 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.
abstract: 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.
authors.affiliation: Imperial Centre for Cardiovascular Disease Prevention (ICCP), School of Public Health, Imperial College London, London, UK. Electronic address: a.vallejo-vaz@imperial.ac.uk.
authors.forename: Antonio J
authors.initials: AJ
authors.lastname: Vallejo-Vaz
authors.affiliation: 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.
authors.forename: Asif
authors.initials: A
authors.lastname: Akram
authors.affiliation: Cardiovascular and Cell Sciences Research Institute, St George's, University of London, London, UK.
authors.forename: Sreenivasa Rao
authors.initials: SR
authors.lastname: Kondapally Seshasai
authors.affiliation: Cardiovascular and Cell Sciences Research Institute, St George's, University of London, London, UK.
authors.forename: Della
authors.initials: D
authors.lastname: Cole
authors.affiliation: Cardiovascular Medicine, Royal Perth Hospital, University of Western Australia, Perth, Australia.
authors.forename: Gerald F
authors.initials: GF
authors.lastname: Watts
authors.affiliation: Department of Vascular Medicine, Academic Medical Centre, Amsterdam, The Netherlands.
authors.forename: G Kees
authors.initials: GK
authors.lastname: Hovingh
authors.affiliation: Department of Vascular Medicine, Academic Medical Centre, Amsterdam, The Netherlands.
authors.forename: John J P
authors.initials: JJ
authors.lastname: Kastelein
authors.affiliation: Fundación Hipercolesterolemia Familiar, Madrid, Spain.
authors.forename: Pedro
authors.initials: P
authors.lastname: Mata
authors.affiliation: Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa.
authors.forename: Frederick J
authors.initials: FJ
authors.lastname: Raal
authors.affiliation: Heart Institute (InCor), University of São Paulo Medical School Hospital, São Paulo, Brazil.
authors.forename: Raul D
authors.initials: RD
authors.lastname: Santos
authors.affiliation: University Department of Medicine, Central Manchester University Hospitals, Manchester, UK.
authors.forename: Handrean
authors.initials: H
authors.lastname: Soran
authors.affiliation: Centre for Cardiovascular Surgery and Transplantation, Brno, Czech Republic; Ceitec, Masaryk University, Brno, Czech Republic.
authors.forename: Tomas
authors.initials: T
authors.lastname: Freiberger
authors.affiliation: Laboratory of Biochemistry and Molecular Therapeutics, Faculty of Pharmacy, Saint-Joseph University, Beirut, Lebanon.
authors.forename: Marianne
authors.initials: M
authors.lastname: Abifadel
authors.affiliation: Instituto Nacional de Ciencias Médicas y Nutrición, Mexico City, Mexico.
authors.forename: Carlos A
authors.initials: CA
authors.lastname: Aguilar-Salinas
authors.affiliation: Cardiovascular Prevention and Rehabilitation Unit, Prince Sultan Cardiac Centre Riyadh, Riyadh, Saudi Arabia.
authors.forename: Fahad
authors.initials: F
authors.lastname: Alnouri
authors.affiliation: Lipid Clinic, Department of Nutrition, Clínica Las Condes, Santiago de Chile, Chile.
authors.forename: Rodrigo
authors.initials: R
authors.lastname: Alonso
authors.affiliation: Sultan Qaboos University Hospital, Muscat, Oman.
authors.forename: Khalid
authors.initials: K
authors.lastname: Al-Rasadi
authors.affiliation: Department of Hypertension, Medical University of Lodz, Lodz, Poland.
authors.forename: Maciej
authors.initials: M
authors.lastname: Banach
authors.affiliation: National Advisory Unit on Familial Hypercholesterolemia, Oslo University Hospital, Norway.
authors.forename: Martin P
authors.initials: MP
authors.lastname: Bogsrud
authors.affiliation: Instituto Nacional de Saúde Doutor Ricardo Jorge and Biosystems & Integrative Sciences Institute (BioISI), Universidade de Lisboa, Portugal.
authors.forename: Mafalda
authors.initials: M
authors.lastname: Bourbon
authors.affiliation: Endocrinologie, métabolisme et prévention cardiovasculaire, Institut E3M et IHU cardiométabolique (ICAN), Hôpital Pitié-Salpêtrière, Paris, France.
authors.forename: Eric
authors.initials: E
authors.lastname: Bruckert
authors.affiliation: 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.
authors.forename: Josip
authors.initials: J
authors.lastname: Car
authors.affiliation: Charles University in Prague, Prague, Czech Republic.
authors.forename: Richard
authors.initials: R
authors.lastname: Ceska
authors.affiliation: FASTA University, School of Medicine, Mar del Plata, Argentina.
authors.forename: Pablo
authors.initials: P
authors.lastname: Corral
authors.affiliation: Centres Hospitaliers Jolimont, Haine Saint-Paul, Belgium.
authors.forename: Olivier
authors.initials: O
authors.lastname: Descamps
authors.affiliation: Austrian Atherosclerosis Society, c/o Division of Genetic Epidemiology, Medical University of Innsbruck, Innsbruck, Austria.
authors.forename: Hans
authors.initials: H
authors.lastname: Dieplinger
authors.affiliation: Vietnam Heart Institute, Bach Mai Hospital, Hanoi, Viet Nam.
authors.forename: Can T
authors.initials: CT
authors.lastname: Do
authors.affiliation: Hadassah Hebrew University Medical Centre, Jerusalem, Israel.
authors.forename: Ronen
authors.initials: R
authors.lastname: Durst
authors.affiliation: Russian Cardiology Research and Production Centre, Moscow, Russia.
authors.forename: Marat V
authors.initials: MV
authors.lastname: Ezhov
authors.affiliation: University Medical Centre Ljubljana, Division of Medicine, Preventive Cardiology Unit, Ljubljana, Slovenia; Medical Faculty, University of Ljubljana, Ljubljana, Slovenia.
authors.forename: Zlatko
authors.initials: Z
authors.lastname: Fras
authors.affiliation: Universitatea de Medicina si Farmacie Victor Babes din Timisoara, Romania.
authors.forename: Dan
authors.initials: D
authors.lastname: Gaita
authors.affiliation: Medical Genetics Department, Centro Hospitalar de Lisboa Ocidental and Genetics Laboratory, Lisbon Medical School, University of Lisbon, Portugal.
authors.forename: Isabel M
authors.initials: IM
authors.lastname: Gaspar
authors.affiliation: McGill University, Montreal, Canada.
authors.forename: Jaques
authors.initials: J
authors.lastname: Genest
authors.affiliation: National Cerebral and Cardiovascular Centre Research Institute, Osaka, Japan.
authors.forename: Mariko
authors.initials: M
authors.lastname: Harada-Shiba
authors.affiliation: National Clinical Research Centre of Cardiovascular Diseases, Fuwai Hospital, National Centre for Cardiovascular Diseases, Beijing, China.
authors.forename: Lixin
authors.initials: L
authors.lastname: Jiang
authors.affiliation: Ege University Medical School, Department of Cardiology, Izmir, Turkey.
authors.forename: Meral
authors.initials: M
authors.lastname: Kayikcioglu
authors.affiliation: National Heart Centre Singapore and Duke-National University of Singapore, Singapore.
authors.forename: Carolyn S P
authors.initials: CS
authors.lastname: Lam
authors.affiliation: Research Institute of Cardiology and Regenerative Therapy, Faculty of Medicine, University of Latvia, Paul Stradins Clinical University Hospital, Riga, Latvia.
authors.forename: Gustavs
authors.initials: G
authors.lastname: Latkovskis
authors.affiliation: Universität des Saarlandes, Homburg, Germany.
authors.forename: Ulrich
authors.initials: U
authors.lastname: Laufs
authors.affiliation: University of Ioannina Medical School, Ioannina, Greece.
authors.forename: Evangelos
authors.initials: E
authors.lastname: Liberopoulos
authors.affiliation: Beijing Institute of Heart, Lung and Blood Vessel Diseases, Beijing Anzhen Hospital, Capital Medical University, Beijing, China.
authors.forename: Jie
authors.initials: J
authors.lastname: Lin
authors.affiliation: Imperial Centre for Cardiovascular Disease Prevention (ICCP), School of Public Health, Imperial College London, London, UK.
authors.forename: Nan
authors.initials: N
authors.lastname: Lin
authors.affiliation: Tallaght Hospital, Ireland.
authors.forename: Vincent
authors.initials: V
authors.lastname: Maher
authors.affiliation: Hospital Militar de Caracas, Caracas, Venezuela.
authors.forename: Nelson
authors.initials: N
authors.lastname: Majano
authors.affiliation: University of Cape Town and National Health Laboratory Service, South Africa.
authors.forename: A David
authors.initials: AD
authors.lastname: Marais
authors.affiliation: Medical Clinic V (Nephrology, Hypertensiology, Rheumatology, Endocrinology, Diabetology), Medical Faculty Mannheim, University of Heidelberg, Germany.
authors.forename: Winfried
authors.initials: W
authors.lastname: März
authors.affiliation: Kyrgyz State Medical Academy, Kyrgyzstan.
authors.forename: Erkin
authors.initials: E
authors.lastname: Mirrakhimov
authors.affiliation: Diagene GmbH, Research Institute, Reinach, Switzerland; Faculty of Medicine, University of Basel, Basel, Switzerland.
authors.forename: André R
authors.initials: AR
authors.lastname: Miserez
authors.affiliation: Dyslipidaemia Department, Institute of Cardiology AMS of Ukraine, Ukraine.
authors.forename: Olena
authors.initials: O
authors.lastname: Mitchenko
authors.affiliation: Institute of Pathology, Laboratory and Forensic Medicine (I-PPerForM) and Faculty of Medicine, Universiti Teknologi MARA, Malaysia.
authors.forename: Hapizah
authors.initials: H
authors.lastname: Nawawi
authors.affiliation: Department of Medical and Health Sciences, Linköping University, Linköping, Sweden.
authors.forename: Lennart
authors.initials: L
authors.lastname: Nilsson
authors.affiliation: Herlev and Gentofte Hospital, Copenhagen University Hospital, University of Copenhagen, Copenhagen, Denmark.
authors.forename: Børge G
authors.initials: BG
authors.lastname: Nordestgaard
authors.affiliation: Institute of Internal Medicine, Faculty of Medicine, University of Debrecen, Hungary.
authors.forename: György
authors.initials: G
authors.lastname: Paragh
authors.affiliation: Vilnius University Santariskiu Hospital, Centre of Cardiology and Angiology, Vilnius, Lithuania.
authors.forename: Zaneta
authors.initials: Z
authors.lastname: Petrulioniene
authors.affiliation: Cantonal Hospital, Zenica, Bosnia and Herzegovina.
authors.forename: Belma
authors.initials: B
authors.lastname: Pojskic
authors.affiliation: Department for Metabolic Diseases, University Hospital Centre Zagreb, School of Medicine, University of Zagreb, Croatia.
authors.forename: Željko
authors.initials: Ž
authors.lastname: Reiner
authors.affiliation: Biotechnology Research Centre, Mashhad University of Medical Sciences, Mashhad, Iran.
authors.forename: Amirhossein
authors.initials: A
authors.lastname: Sahebkar
authors.affiliation: Cardinal Santos Medical Centre, University of the Philippines - Philippine General Hospital (UP-PGH), Philippines.
authors.forename: Lourdes E
authors.initials: LE
authors.lastname: Santos
authors.affiliation: Deutsches Herzzentrum München, Technische Universität München, Deutsches Zentrum für Herz- und Kreislauferkrankungen (DZHK), Munich Heart Alliance, Germany.
authors.forename: Heribert
authors.initials: H
authors.lastname: Schunkert
authors.affiliation: CMHS, UAE University, AlAin, United Arab Emirates.
authors.forename: Abdullah
authors.initials: A
authors.lastname: Shehab
authors.affiliation: Research Unit on Dyslipidaemia and Atherosclerosis, Faculty of Medicine of Monastir, Tunisia.
authors.forename: M Naceur
authors.initials: MN
authors.lastname: Slimane
authors.affiliation: Cardiovascular Genetic Laboratory, Cardiovascular Health Commission, Montevideo, Uruguay.
authors.forename: Mario
authors.initials: M
authors.lastname: Stoll
authors.affiliation: Department of Internal Medicine and Cardiovascular Centre, National Taiwan University Hospital, Taipei, Taiwan.
authors.forename: Ta-Chen
authors.initials: TC
authors.lastname: Su
authors.affiliation: Department of Clinical Pharmacology and Therapeutics, Russian Medical Academy of Postgraduate Education, Ministry of Health of Russian Federation, Russia.
authors.forename: Andrey
authors.initials: A
authors.lastname: Susekov
authors.affiliation: Faculty of Medicine & Surgery, Medical School, Mater Dei Hospital, University of Malta, Malta.
authors.forename: Myra
authors.initials: M
authors.lastname: Tilney
authors.affiliation: Department of Medicine and Therapeutics, The Chinese University of Hong Kong, Hong Kong Special Administrative Region.
authors.forename: Brian
authors.initials: B
authors.lastname: Tomlinson
authors.affiliation: Atherothrombosis Research Centre, University of Ioannina, Ioannina, Greece.
authors.forename: Alexandros D
authors.initials: AD
authors.lastname: Tselepis
authors.affiliation: Coordination Centre for Familial Hyperlipoproteinemias, Institute of Nutrition, FOZOS, Slovak Medical University, Department of Epidemiology, School of Medicine, Comenius University, Bratislava, Slovakia.
authors.forename: Branislav
authors.initials: B
authors.lastname: Vohnout
authors.affiliation: Institute for Molecular Medicine Finland FIMM, University of Helsinki, Helsinki, Finland.
authors.forename: Elisabeth
authors.initials: E
authors.lastname: Widén
authors.affiliation: Rinku General Medical Centre and Osaka University Graduate School of Medicine, Osaka, Japan.
authors.forename: Shizuya
authors.initials: S
authors.lastname: Yamashita
authors.affiliation: University of Milan and Multimedica IRCCS, Milan, Italy.
authors.forename: Alberico L
authors.initials: AL
authors.lastname: Catapano
authors.affiliation: Imperial Centre for Cardiovascular Disease Prevention (ICCP), School of Public Health, Imperial College London, London, UK.
authors.forename: Kausik K
authors.initials: KK
authors.lastname: Ray
mesh_terms: D022126:Access to Information; D003299:Cooperative Behavior; D057225:Data Mining; D019033:Delivery of Health Care, Integrated / Q000458:organization & administration; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000175:diagnosis / Q000235:genetics / Q000401:mortality / Q000628:therapy*; D016247:Information Storage and Retrieval; D007391:International Cooperation; D009937:Organizational Objectives; D000071836:Professional Practice Gaps; D012042:Registries; D012107:Research Design; D016896:Treatment Outcome
keywords: Cardiovascular disease; Familial Hypercholesterolaemia Studies Collaboration; Familial hypercholesterolaemia; LDL-Cholesterol; Registry; Study design