| Literature DB >> 31895433 |
Katherine A Wilemon1, Jasmine Patel1, Carlos Aguilar-Salinas2,3,4,5, Catherine D Ahmed1, Mutaz Alkhnifsawi6,7, Wael Almahmeed8, Rodrigo Alonso2,6,9,10, Khalid Al-Rasadi6,11, Lina Badimon12,13, Luz M Bernal14, Martin P Bogsrud15,16, Lynne T Braun17, Liam Brunham18, Alberico L Catapano19,20, Kristyna Cillíková21,22, Pablo Corral2,23, Regina Cuevas24, Joep C Defesche25, Olivier S Descamps22,26,27, Sarah de Ferranti28,29, Jean-Luc Eiselé30, Gerardo Elikir2,31, Emanuela Folco6,32, Tomas Freiberger33,34, Francesco Fuggetta22,35, Isabel M Gaspar36, Ákos G Gesztes22,37, Urh Grošelj38, Ian Hamilton-Craig39, Gabriele Hanauer-Mader22,40, Mariko Harada-Shiba41, Gloria Hastings22,42, G Kees Hovingh43, Maria C Izar44, Allison Jamison1, Gunnar N Karlsson22,45, Meral Kayikçioglu22,46,47, Sue Koob48, Masahiro Koseki49, Stacey Lane1, Marcos M Lima-Martinez2,50,51, Greizy López52, Tania L Martinez53, David Marais54, Letrillart Marion22,55, Pedro Mata2,9,22, Inese Maurina22,56, Diana Maxwell22, Roopa Mehta3,4, George A Mensah57, André R Miserez58,59, Dermot Neely60,61, Stephen J Nicholls62, Atsushi Nohara63, Børge G Nordestgaard64,65, Leiv Ose66,67, Athanasios Pallidis22,68, Jing Pang69, Jules Payne22,61, Amy L Peterson70, Monica P Popescu22,71, Raman Puri72,73, Kausik K Ray20,74, Ashraf Reda75,76, Tiziana Sampietro77,78, Raul D Santos2,6,79, Inge Schalkers22,80, Laura Schreier2,81, Michael D Shapiro1,82, Eric Sijbrands83, Daniel Soffer84, Claudia Stefanutti85,86, Mario Stoll2,87, Rody G Sy88, Martha L Tamayo52, Myra K Tilney89,90, Lale Tokgözoglu20,91, Brian Tomlinson92, Antonio J Vallejo-Vaz74, Alejandra Vazquez-Cárdenas2,93,94, Patrícia Vieira de Luca95, David S Wald96, Gerald F Watts69,97, Nanette K Wenger98, Michaela Wolf23,99, David Wood30, Aram Zegerius100, Thomas A Gaziano31,101,102, Samuel S Gidding1.
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.Entities:
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Year: 2020 PMID： 31895433 DOI： 10.1001/jamacardio.2019.5173
Source DB: PubMed Journal: JAMA Cardiol Impact factor: 14.676