Reducing the Clinical and Public Health Burden of Familial Hypercholesterolemia: A Global Call to Action
Katherine Wilemon,Jasmine Patel,Carlos A. Aguilar-Salinas,Catherine D. Ahmed,Mutaz Alkhnifsawi,Wael Almahmeed,Rodrigo Alonso,Khalid Al-Rasadi,Lina Badimon,Luz M Bernal,Martin Prøven Bogsrud,Lynne T. Braun,Liam R. Brunham,Alberico L. Catapano,Kristyna Cillíková,Pablo Corral,Regina Cuevas,Joep C. Defesche,Olivier S. Descamps,Sarah D. de Ferranti,Sarah D. de Ferranti,Jean-Luc Eiselé,Gerardo Elikir,Emanuela Folco,Tomáš Freiberger,Francesco Fuggetta,I.M. Gaspar,Ákos G Gesztes,Urh Groselj,Ian Hamilton-Craig,Gabriele Hanauer-Mader,Mariko Harada-Shiba,Gloria Hastings,G. Kees Hovingh,Maria Cristina de Oliveira Izar,Allison Jamison,Gunnar N Karlsson,Meral Kayıkçıoğlu,Sue Koob,Masahiro Koseki,Stacey R. Lane,Marcos M. Lima-Martínez,Greizy López,Tania Leme da Rocha Martinez,David Marais,Letrillart Marion,Pedro Mata,Inese Maurina,Diana Maxwell,Roopa Mehta,George A. Mensah,André R. Miserez,Dermot Neely,Stephen J. Nicholls,Atsushi Nohara,Børge G. Nordestgaard,Børge G. Nordestgaard,Leiv Ose,Leiv Ose,Athanasios Pallidis,Jing Pang,Jules Payne,Amy L. Peterson,Monica P Popescu,Raman Puri,Kausik K. Ray,Ashraf Reda,Tiziana Sampietro,Raul D. Santos,Inge Schalkers,Laura Schreier,Michael D. Shapiro,Eric J.G. Sijbrands,Daniel Soffer,Claudia Stefanutti,Mario Stoll,Rody G. Sy,Martha L. Tamayo,Myra Tilney,Myra Tilney,Lale Tokgozoglu,Brian Tomlinson,Antonio J. Vallejo-Vaz,Alejandra Vázquez-Cárdenas,Patrícia Vieira de Luca,David S. Wald,Gerald F. Watts,Gerald F. Watts,Nanette K. Wenger,Michaela Wolf,Darien Wood,Aram Zegerius,Thomas A. Gaziano,Thomas A. Gaziano,Samuel S. Gidding +94 more
TLDR
The Global Call to Action on Familial Hypercholesterolemia thus represents individuals with FH, advocacy leaders, scientific experts, policy makers, and the original authors of the 1998 World Health Organization report.Abstract:
Importance: Familial hypercholesterolemia (FH) is an underdiagnosed and undertreated genetic disorder that leads to premature morbidity and mortality due to atherosclerotic cardiovascular disease. Familial hypercholesterolemia affects 1 in 200 to 250 people around the world of every race and ethnicity. The lack of general awareness of FH among the public and medical community has resulted in only 10% of the FH population being diagnosed and adequately treated. The World Health Organization recognized FH as a public health priority in 1998 during a consultation meeting in Geneva, Switzerland. The World Health Organization report highlighted 11 recommendations to address FH worldwide, from diagnosis and treatment to family screening and education. Research since the 1998 report has increased understanding and awareness of FH, particularly in specialty areas, such as cardiology and lipidology. However, in the past 20 years, there has been little progress in implementing the 11 recommendations to prevent premature atherosclerotic cardiovascular disease in an entire generation of families with FH. Observations: In 2018, the Familial Hypercholesterolemia Foundation and the World Heart Federation convened the international FH community to update the 11 recommendations. Two meetings were held: one at the 2018 FH Foundation Global Summit and the other during the 2018 World Congress of Cardiology and Cardiovascular Health. Each meeting served as a platform for the FH community to examine the original recommendations, assess the gaps, and provide commentary on the revised recommendations. The Global Call to Action on Familial Hypercholesterolemia thus represents individuals with FH, advocacy leaders, scientific experts, policy makers, and the original authors of the 1998 World Health Organization report. Attendees from 40 countries brought perspectives on FH from low-, middle-, and high-income regions. Tables listing country-specific government support for FH care, existing country-specific and international FH scientific statements and guidelines, country-specific and international FH registries, and known FH advocacy organizations around the world were created. Conclusions and Relevance: By adopting the 9 updated public policy recommendations created for this document, covering awareness; advocacy; screening, testing, and diagnosis; treatment; family-based care; registries; research; and cost and value, individual countries have the opportunity to prevent atherosclerotic heart disease in their citizens carrying a gene associated with FH and, likely, all those with severe hypercholesterolemia as well.read more
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Global perspective of familial hypercholesterolaemia: a cross-sectional study from the EAS Familial Hypercholesterolaemia Studies Collaboration (FHSC)
Antonio J. Vallejo-Vaz,C. Stevens,Alexander R.M. Lyons,Kanika I. Dharmayat,Tomáš Freiberger,G. Kees Hovingh,Pedro Mata,Frederick J. Raal,Raul D. Santos,Handrean Soran,Gerald F. Watts,Marianne Abifadel,Carlos A. Aguilar-Salinas,Khalid F. AlHabib,Mutaz Alkhnifsawi,Wael Almahmeed,Fahad Alnouri,Rodrigo Alonso,Khalid Al-Rasadi,Ahmad Al-Sarraf,Nasreen Al-Sayed,Francisco Araujo,T.F. Ashavaid,Maciej Banach,Sophie Béliard,Marianne Benn,Christoph J. Binder,Martin P. Bogsrud,Mafalda Bourbon,Krzysztof Chlebus,Pablo Corral,Kairat Davletov,Olivier S. Descamps,Ronen Durst,Marat V. Ezhov,Dan Gaita,Jacques Genest,Urh Groselj,Mariko Harada-Shiba,Kirsten B. Holven,Meral Kayıkçıoğlu,Weerapan Khovidhunkit,Katarina Lalic,Gustavs Latkovskis,Ulrich Laufs,Evangelos Liberopoulos,Marcos M. Lima-Martínez,Jie Lin,Vincent Maher,A. David Marais,Winfried März,Erkin M. Mirrakhimov,André R. Miserez,Olena Mitchenko,Hapizah Nawawi,Børge G. Nordestgaard,Andrie G. Panayiotou,György Paragh,Zaneta Petrulioniene,Belma Pojskic,Arman Postadzhiyan,Katarina Raslova,Ashraf Reda,Željko Reiner,Fouzia Sadiq,Wilson E Sadoh,Heribert Schunkert,Aleksandr B. Shek,Mario Stoll,Erik S.G. Stroes,Ta-Chen Su,Tavintharan Subramaniam,Andrey V. Susekov,Myra Tilney,Brian Tomlinson,Thanh Huong Truong,Alexandros D. Tselepis,Anne Tybjærg-Hansen,Alejandra Vázquez Cárdenas,Margus Viigimaa,Luya Wang,Shizuya Yamashita,John J.P. Kastelein,Eric Bruckert,Branislav Vohnout,Laura Schreier,Jing Pang,C. Ebenbichler,Hans Dieplinger,Reinhold Innerhofer,Yvonne Winhofer-Stöckl,Susanne Greber-Platzer,Konstantin Krychtiuk,Walter Speidl,Hermann Toplak,Kurt Widhalm,Thomas M. Stulnig,Kurt Huber,Florian Höllerl,Gersina Rega-Kaun,Lucas Kleemann,Martin Mäser,Sabine Scholl-Bürgi,Christoph Säly,Florian J. Mayer,Gaelle Sablon,Eric Tarantino,Charlotte Nzeyimana,Lamija Pojskic,Ibrahim Sisic,Azra D. Nalbantic,Cinthia E. Jannes,Alexandre C. 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Aparicio,Victoria M. Zubieta,Perla A.C. Gonzalez,Aldo Ferreira-Hermosillo,Nacu C. Portilla,Guadalupe J. Dominguez,Alinna Y.R. Garcia,Hector E.A. Cazares,Jesus R. Gonzalez,Carla V.M. Valencia,Francisco G. Padilla,Ramon M. Prado,Manuel O. De los Rios Ibarra,Ruy D Arjona Villicaña,Karina J.A. Rivera,Ricardo A. Carrera,Jose A. Alvarez,Jose C.A. Martinez,Manuel de los Reyes Barrera Bustillo,Gonzalo C. Vargas,Roberto C. Chacon,Mario H.F. Andrade,Ashanty F. Ortega,Hector G. Alcala,Laura E.G. de Leon,Berenice G. Guzman,Jose J.G. Garcia,Juan C.G. Cuellar,José Ramiro Cruz,Anell Hernandez Garcia,Jesus R.H. Almada,Ursulo J. Herrera,Fabiola L. Sobrevilla,Eduardo M. Rodriguez,Cristina M. Sibaja,Alma B.M. Rodriguez,Jose C.M. Oyervides,Daniel I.P. Vazquez,Eduardo A.R. Rodriguez,Ma L.R. Osorio,Juan R. Saucedo,Margarita T. Tamayo,Luis A.V. Talavera,Luis E.V. Arroyo,Eloy A.Z. Carrillo,Alphonsus Isara,Darlington E. 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Yu,Vitaliy Zafiraki,Mikhail Voevoda,Victor Gurevich,Dmitry Duplyakov,Yulia Ragino,Maya Safarova,Igor Shaposhnik,Fahmi Alkaf,Alia Khudari,Nawal Rwaili,Faisal A. Al-Allaf,Mohammad Alghamdi,Mohammed A. Batais,Turky H. Almigbal,Abdulhalim Jamal Kinsara,Ashraf H.A. AlQudaimi,Zuhier Awan,Omer A. Elamin,Hani Altaradi,Natasa Rajkovic,Ljiljana Popovic,Sandra Singh,Ljubica Stosic,Iva Rasulic,N. Lalic,Carolyn S.P. Lam,Tan J. Le,Eric L.T. Siang,Sanjaya Dissanayake,Justin T. I-Shing,Tai E. Shyong,Terrance C.S. Jin,Karin Balinth,Ingrid Buganova,Lubomira Fabryova,Michaela Kadurova,Alexander Klabnik,Miriam Kozárová,Jana Sirotiakova,Tadej Battelino,Jernej Kovac,Matej Mlinaric,Ursa Sustar,Katarina T. Podkrajsek,Zlatko Fras,Borut Jug,Matija Cevc,Gillian J. Pilcher,Dirk J. Blom,K.H. Wolmarans,B.C. 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Le,Lale Tokgozoglu,Alberico L. Catapano,Kausik K. Ray +723 more
TL;DR: The European Atherosclerosis Society Familial Hypercholesterolaemia Studies Collaboration (FHSC) global registry provides a platform for the global surveillance of familial hypercholesterololaemia through harmonisation and pooling of multinational data as discussed by the authors.
Journal ArticleDOI
Familial hypercholesterolaemia: evolving knowledge for designing adaptive models of care.
Gerald F. Watts,Gerald F. Watts,Samuel S. Gidding,Pedro Mata,Jing Pang,David R. Sullivan,David R. Sullivan,Shizuya Yamashita,Frederick J. Raal,Raul D. Santos,Kausik K. Ray +10 more
TL;DR: The latest advances that can inform the development and implementation of new models of care for familial hypercholesterolaemia are summarized, with an emphasis on articles published since 2014.
Journal ArticleDOI
Integrating genomics with biomarkers and therapeutic targets to invigorate cardiovascular drug development.
Michael V. Holmes,Tom G. Richardson,Brian A. Ference,Neil M Davies,Neil M Davies,George Davey Smith +5 more
TL;DR: This Review compares and contrast the use of Mendelian randomization to evaluate potential drug targets versus quantitative traits and explains how genetic epidemiological studies can be used to assess the aetiological roles of biomarkers in disease and to prioritize drug targets, including designing their evaluation in clinical trials.
Journal ArticleDOI
Integrated Guidance for Enhancing the Care of Familial Hypercholesterolaemia in Australia
Gerald F. Watts,David R. Sullivan,David L Hare,Karam Kostner,Ari Horton,Damon A. Bell,Tom Brett,Ronald J. Trent,Nicola Poplawski,Andrew J. Martin,Shubha Srinivasan,Robert N. Justo,Clara K Chow,Jing Pang +13 more
TL;DR: This work provides an updated guidance, presented as a series of systematically collated recommendations, on the care of patients and families with FH, and suggests models of care for FH need to be adapted to local and regional health care needs and available resources.
Journal ArticleDOI
Towards an SI-Traceable Reference Measurement System for Seven Serum Apolipoproteins Using Bottom-Up Quantitative Proteomics: Conceptual Approach Enabled by Cross-Disciplinary/Cross-Sector Collaboration.
Christa M. Cobbaert,Harald Althaus,Ilijana Begcevic Brkovic,Uta Ceglarek,Stefan Coassin,Vincent Delatour,Liesbet Deprez,Ioannis Dikaios,Julia Dittrich,Andrew N. Hoofnagle,Gerhard M. Kostner,Florian Kronenberg,Zsusanna Kuklenyik,Urban Prinzing,Hubert W. Vesper,Ingrid Zegers,L. Renee Ruhaak +16 more
TL;DR: In this paper, a reference measurement system (RMS) for seven apolipoproteins based on isotope dilution mass spectrometry and peptide-based calibration is proposed.
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TL;DR: In an analysis of participants with serial lipid measurements over many years, FH mutation carriers had higher cumulative exposure to LDL cholesterol than noncarriers and within any stratum of observed LDL cholesterol, risk of CAD was higher among FH mutations carriers than non carriers.
Journal ArticleDOI
Efficacy of statins in familial hypercholesterolaemia: a long term cohort study
Jorie Versmissen,Daniëlla M. Oosterveer,Mojgan Yazdanpanah,Joep C. Defesche,Dick C. Basart,Anho H Liem,Jan Heeringa,Jacqueline C.M. Witteman,P. J. Lansberg,John J.P. Kastelein,Eric J.G. Sijbrands +10 more
TL;DR: Lower statin doses than those currently advised reduced the risk of coronary heart disease to a greater extent than anticipated in patients with familial hypercholesterolaemia.
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