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Pooling and expanding registries of familial hypercholesterolaemia to assess gaps in care and improve disease management and outcomes: Rationale an... - PubMed - NCBI

2016 Dec;22:1-32. doi: 10.1016/j.atherosclerosissup.2016.10.001. Epub 2016 Dec 7.

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.

EAS Familial Hypercholesterolaemia Studies Collaboration, Vallejo-Vaz AJ1, Akram A2, Kondapally Seshasai SR3, Cole D3, Watts GF4, Hovingh GK5, Kastelein JJ5, Mata P6, Raal FJ7, Santos RD8, Soran H9, Freiberger T10, Abifadel M11, Aguilar-Salinas CA12, Alnouri F13, Alonso R14, Al-Rasadi K15, Banach M16, Bogsrud MP17, Bourbon M18, Bruckert E19, Car J2, Ceska R20, Corral P21, Descamps O22, Dieplinger H23, Do CT24, Durst R25, Ezhov MV26, Fras Z27, Gaita D28, Gaspar IM29, Genest J30, Harada-Shiba M31, Jiang L32, Kayikcioglu M33, Lam CS34, Latkovskis G35, Laufs U36, Liberopoulos E37, Lin J38, Lin N39, Maher V40, Majano N41, Marais AD42, März W43, Mirrakhimov E44, Miserez AR45, Mitchenko O46, Nawawi H47, Nilsson L48, Nordestgaard BG49, Paragh G50, Petrulioniene Z51, Pojskic B52, Reiner Ž53, Sahebkar A54, Santos LE55, Schunkert H56, Shehab A57, Slimane MN58, Stoll M59, Su TC60, Susekov A61, Tilney M62, Tomlinson B63, Tselepis AD64, Vohnout B65, Widén E66, Yamashita S67, Catapano AL68, Ray KK39.

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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.