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 Bourbon & 52 others Eric 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

46 Citations (Scopus)

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

Fingerprint

Hyperlipoproteinemia Type II
Disease Management
Registries
Atherosclerosis
Public Health
Inborn Genetic Diseases
Information Dissemination
Policy Making
Information Storage and Retrieval
Public Policy
Health Policy
Practice Guidelines
Cause of Death
Cardiovascular Diseases
Clinical Trials
Guidelines

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

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.; Akram, Asif; Kondapally Seshasai, Sreenivasa Rao; Cole, Della; Watts, Gerald F.; Hovingh, G. Kees; Kastelein, John J.P.; Mata, Pedro; Raal, Frederick J.; Santos, Raul D.; Soran, Handrean; Freiberger, Tomas; 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; März, Winfried; Mirrakhimov, Erkin; Miserez, André R.; Mitchenko, Olena; Nawawi, Hapizah; Nilsson, Lennart; Nordestgaard, Børge G.; Paragh, György; Petrulioniene, Zaneta; Pojskic, Belma; Reiner, Željko; 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; Widén, Elisabeth; Yamashita, Shizuya; Catapano, Alberico L.; Ray, Kausik K.

In: Atherosclerosis Supplements, Vol. 22, 01.12.2016, p. 1-32.

Research output: Contribution to journalArticle

Vallejo-Vaz, AJ, Akram, A, Kondapally Seshasai, SR, Cole, D, Watts, GF, Hovingh, GK, Kastelein, JJP, Mata, P, Raal, FJ, Santos, RD, Soran, H, Freiberger, T, Abifadel, M, Aguilar-Salinas, CA, Alnouri, F, Alonso, R, Al-Rasadi, K, Banach, M, Bogsrud, MP, Bourbon, M, Bruckert, E, Car, J, Ceska, R, Corral, P, Descamps, O, Dieplinger, H, Do, CT, Durst, R, Ezhov, MV, Fras, Z, Gaita, D, Gaspar, IM, Genest, J, Harada-Shiba, M, Jiang, L, Kayikcioglu, M, Lam, CSP, Latkovskis, G, Laufs, U, Liberopoulos, E, Lin, J, Lin, N, Maher, V, Majano, N, Marais, AD, März, W, Mirrakhimov, E, Miserez, AR, Mitchenko, O, Nawawi, H, Nilsson, L, Nordestgaard, BG, Paragh, G, Petrulioniene, Z, Pojskic, B, Reiner, Ž, Sahebkar, A, Santos, LE, Schunkert, H, Shehab, A, Slimane, MN, Stoll, M, Su, TC, Susekov, A, Tilney, M, Tomlinson, B, Tselepis, AD, Vohnout, B, Widén, E, Yamashita, S, Catapano, AL & Ray, KK 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, vol. 22, pp. 1-32. https://doi.org/10.1016/j.atherosclerosissup.2016.10.001
Vallejo-Vaz, Antonio J. ; Akram, Asif ; Kondapally Seshasai, Sreenivasa Rao ; Cole, Della ; Watts, Gerald F. ; Hovingh, G. Kees ; Kastelein, John J.P. ; Mata, Pedro ; Raal, Frederick J. ; Santos, Raul D. ; Soran, Handrean ; Freiberger, Tomas ; 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 ; März, Winfried ; Mirrakhimov, Erkin ; Miserez, André R. ; Mitchenko, Olena ; Nawawi, Hapizah ; Nilsson, Lennart ; Nordestgaard, Børge G. ; Paragh, György ; Petrulioniene, Zaneta ; Pojskic, Belma ; Reiner, Željko ; 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 ; Widén, Elisabeth ; Yamashita, Shizuya ; Catapano, Alberico L. ; Ray, Kausik K. / 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. In: Atherosclerosis Supplements. 2016 ; Vol. 22. pp. 1-32.
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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.",
keywords = "Cardiovascular disease, Familial hypercholesterolaemia, Familial Hypercholesterolaemia Studies Collaboration, LDL-Cholesterol, Registry, Study design",
author = "Vallejo-Vaz, {Antonio J.} and Asif Akram and {Kondapally Seshasai}, {Sreenivasa Rao} and Della Cole and Watts, {Gerald F.} and Hovingh, {G. Kees} and Kastelein, {John J.P.} and Pedro Mata and Raal, {Frederick J.} and Santos, {Raul D.} and Handrean Soran and Tomas Freiberger and Marianne Abifadel and Aguilar-Salinas, {Carlos A.} and Fahad Alnouri and Rodrigo Alonso and Khalid Al-Rasadi and Maciej Banach and Bogsrud, {Martin P.} and Mafalda Bourbon and Eric Bruckert and Josip Car and Richard Ceska and Pablo Corral and Olivier Descamps and Hans Dieplinger and Do, {Can T.} and Ronen Durst and Ezhov, {Marat V.} and Zlatko Fras and Dan Gaita and Gaspar, {Isabel M.} and Jaques Genest and Mariko Harada-Shiba and Lixin Jiang and Meral Kayikcioglu and Lam, {Carolyn S.P.} and Gustavs Latkovskis and Ulrich Laufs and Evangelos Liberopoulos and Jie Lin and Nan Lin and Vincent Maher and Nelson Majano and Marais, {A. David} and Winfried M{\"a}rz and Erkin Mirrakhimov and Miserez, {Andr{\'e} R.} and Olena Mitchenko and Hapizah Nawawi and Lennart Nilsson and Nordestgaard, {B{\o}rge G.} and Gy{\"o}rgy Paragh and Zaneta Petrulioniene and Belma Pojskic and Željko Reiner and Amirhossein Sahebkar and Santos, {Lourdes E.} and Heribert Schunkert and Abdullah Shehab and Slimane, {M. Naceur} and Mario Stoll and Su, {Ta Chen} and Andrey Susekov and Myra Tilney and Brian Tomlinson and Tselepis, {Alexandros D.} and Branislav Vohnout and Elisabeth Wid{\'e}n and Shizuya Yamashita and Catapano, {Alberico L.} and Ray, {Kausik K.}",
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TY - JOUR

T1 - Pooling and expanding registries of familial hypercholesterolaemia to assess gaps in care and improve disease management and outcomes

T2 - Rationale and design of the global EAS Familial Hypercholesterolaemia Studies Collaboration

AU - Vallejo-Vaz, Antonio J.

AU - Akram, Asif

AU - Kondapally Seshasai, Sreenivasa Rao

AU - Cole, Della

AU - Watts, Gerald F.

AU - Hovingh, G. Kees

AU - Kastelein, John J.P.

AU - Mata, Pedro

AU - Raal, Frederick J.

AU - Santos, Raul D.

AU - Soran, Handrean

AU - Freiberger, Tomas

AU - Abifadel, Marianne

AU - Aguilar-Salinas, Carlos A.

AU - Alnouri, Fahad

AU - Alonso, Rodrigo

AU - Al-Rasadi, Khalid

AU - Banach, Maciej

AU - Bogsrud, Martin P.

AU - Bourbon, Mafalda

AU - Bruckert, Eric

AU - Car, Josip

AU - Ceska, Richard

AU - Corral, Pablo

AU - Descamps, Olivier

AU - Dieplinger, Hans

AU - Do, Can T.

AU - Durst, Ronen

AU - Ezhov, Marat V.

AU - Fras, Zlatko

AU - Gaita, Dan

AU - Gaspar, Isabel M.

AU - Genest, Jaques

AU - Harada-Shiba, Mariko

AU - Jiang, Lixin

AU - Kayikcioglu, Meral

AU - Lam, Carolyn S.P.

AU - Latkovskis, Gustavs

AU - Laufs, Ulrich

AU - Liberopoulos, Evangelos

AU - Lin, Jie

AU - Lin, Nan

AU - Maher, Vincent

AU - Majano, Nelson

AU - Marais, A. David

AU - März, Winfried

AU - Mirrakhimov, Erkin

AU - Miserez, André R.

AU - Mitchenko, Olena

AU - Nawawi, Hapizah

AU - Nilsson, Lennart

AU - Nordestgaard, Børge G.

AU - Paragh, György

AU - Petrulioniene, Zaneta

AU - Pojskic, Belma

AU - Reiner, Željko

AU - Sahebkar, Amirhossein

AU - Santos, Lourdes E.

AU - Schunkert, Heribert

AU - Shehab, Abdullah

AU - Slimane, M. Naceur

AU - Stoll, Mario

AU - Su, Ta Chen

AU - Susekov, Andrey

AU - Tilney, Myra

AU - Tomlinson, Brian

AU - Tselepis, Alexandros D.

AU - Vohnout, Branislav

AU - Widén, Elisabeth

AU - Yamashita, Shizuya

AU - Catapano, Alberico L.

AU - Ray, Kausik K.

PY - 2016/12/1

Y1 - 2016/12/1

N2 - 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.

AB - 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.

KW - Cardiovascular disease

KW - Familial hypercholesterolaemia

KW - Familial Hypercholesterolaemia Studies Collaboration

KW - LDL-Cholesterol

KW - Registry

KW - Study design

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