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

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

Research output: Contribution to journalArticle

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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.

Original languageEnglish
Pages (from-to)1-32
Number of pages32
JournalAtherosclerosis Supplements
Volume22
DOIs
Publication statusPublished - Dec 1 2016

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Keywords

  • Cardiovascular disease
  • Familial hypercholesterolaemia
  • Familial Hypercholesterolaemia Studies Collaboration
  • LDL-Cholesterol
  • Registry
  • Study design

ASJC Scopus subject areas

  • Internal Medicine
  • Cardiology and Cardiovascular Medicine

Cite this

Vallejo-Vaz, A. J., Akram, A., Kondapally Seshasai, S. R., Cole, D., Watts, G. F., Hovingh, G. K., Kastelein, J. J. P., Mata, P., Raal, F. J., Santos, R. D., Soran, H., Freiberger, T., Abifadel, M., Aguilar-Salinas, C. A., Alnouri, F., Alonso, R., Al-Rasadi, K., Banach, M., Bogsrud, M. P., ... Ray, K. 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, 1-32. https://doi.org/10.1016/j.atherosclerosissup.2016.10.001