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

Vallejo-Vaz, Antonio J. and Akram, Asif and Kondapally Seshasai, Sreenivasa Rao and Cole, Della and Watts, Gerald F. and Hovingh, G. Kees and Kastelein, John J.P. and Mata, Pedro and Raal, Frederick J. and Santos, Raul D. and Soran, Handrean and Freiberger, Tomas and Abifadel, Marianne and Aguilar-Salinas, Carlos A. and Alnouri, Fahad and Alonso, Rodrigo and Al-Rasadi, Khalid and Banach, Maciej and Bogsrud, Martin P. and Bourbon, Mafalda and Bruckert, Eric and Car, Josip and Ceska, Richard and Corral, Pablo and Descamps, Olivier and Dieplinger, Hans and Do, Can T. and Durst, Ronen and Ezhov, Marat V. and Fras, Zlatko and Gaita, Dan and Gaspar, Isabel M. and Genest, Jaques and Harada-Shiba, Mariko and Jiang, Lixin and Kayikcioglu, Meral and Lam, Carolyn S.P. and Latkovskis, Gustavs and Laufs, Ulrich and Liberopoulos, Evangelos and Lin, Jie and Lin, Nan and Maher, Vincent and Majano, Nelson and Marais, A. David and März, Winfried and Mirrakhimov, Erkin and Miserez, André R. and Mitchenko, Olena and Nawawi, Hapizah and Nilsson, Lennart and Nordestgaard, Børge G. and Paragh, György and Petrulioniene, Zaneta and Pojskic, Belma and Reiner, Željko and Sahebkar, Amirhossein and Santos, Lourdes E. and Schunkert, Heribert and Shehab, Abdullah and Slimane, M. Naceur and Stoll, Mario and Su, Ta-Chen and Susekov, Andrey and Tilney, Myra and Tomlinson, Brian and Tselepis, Alexandros D. and Vohnout, Branislav and Widén, Elisabeth and Yamashita, Shizuya and Catapano, Alberico L. and Ray, Kausik K. (2016) 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. Atherosclerosis Supplements, 22. pp. 1-32. ISSN 1567-5688

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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.

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