Publication details

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

Authors	VALLEJO-VAZ Antonio J. AKRAM Asif SESHASAI Sreenivasa Rao Kondapall COLE Della WATTS Gerald F. HOVINGH G. Kees KASTELEIN John J. P. MATA Pedro RAAL Frederick J. SANTOS Raul D. SORAN Handrean FREIBERGER Tomáš ABIFADEL Marianne AGUILAR-SALINAS Carlos A. ALNOURI Fahad ALONSO Rodrigo AL-RASADI Khalid BANACH Maciej BOGSRUD Martin P. BOURBON Mafalda BRUCKERT Eric CAR Josip CESKA Richard CORRAL Pablo DESCAMPS Olivier DIEPLINGER Hans DO Can T. DURST Ronen EZHOV Marat V. FRAS Zlatko GAITA Dan GASPAR Isabel M. GENEST Jaques HARADA-SHIBA Mariko JIANG Lixin KAYIKCIOGLU Meral LAM Carolyn S. P. LATKOVSKIS Gustavs LAUFS Ulrich LIBEROPOULOS Evangelos LIN Jie LIN Nan MAHER Vincent MAJANO Nelson MARAIS A. David MARZ Winfried MIRRAKHIMOV Erkin MISEREZ Andre R. MITCHENKO Olena NAWAWI Hapizah NILSSON Lennart NORDESTGAARD Borge G. PARAGH Gyorgy PETRULIONIENE Zaneta POJSKIC Belma REINER Zeljko SAHEBKAR Amirhossein SANTOS Lourdes E. SCHUNKERT Heribert SHEHAB Abdullah SLIMANE M. Naceur STOLL Mario SU Ta-Chen SUSEKOV Andrey TILNEY Myra TOMLINSON Brian TSELEPIS Alexandros D. VOHNOUT Branislav WIDEN Elisabeth YAMASHITA Shizuya CATAPANO Alberico L. RAY Kausik K.
Year of publication	2016
Type	Article in Periodical
Magazine / Source	Atherosclerosis Supplements
MU Faculty or unit	Central European Institute of Technology
Citation
Web	http://www.sciencedirect.com/science/article/pii/S1567568816300496
Doi	http://dx.doi.org/10.1016/j.atherosclerosissup.2016.10.001
Field	Cardiovascular diseases incl. cardiosurgery
Keywords	Cardiovascular disease; Familial Hypercholesterolaemia Studies Collaboration; Familial hypercholesterolaemia; LDL-Cholesterol; Registry; Study design
Description	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.