Reducing the Clinical and Public Health Burden of Familial Hypercholesterolemia: A Global Call to Action

Katherine A. Wilemon; Jasmine Patel; Carlos Aguilar-Salinas; Catherine D. Ahmed; Mutaz Alkhnifsawi; Wael Almahmeed; Rodrigo Alonso; Khalid Al-Rasadi; Lina Badimon; Luz M. Bernal; Martin P. Bogsrud; Lynne T. Braun; Liam Brunham; Alberico L. Catapano; Kristyna Čillíková; Pablo Corral; Regina Cuevas; Joep C. Defesche; Olivier S. Descamps; Sarah De Ferranti; Jean Luc Eiselé; Gerardo Elikir; Emanuela Folco; Tomas Freiberger; Francesco Fuggetta; Isabel M. Gaspar; Ákos G. Gesztes; Urh Grošelj; Ian Hamilton-Craig; Gabriele Hanauer-Mader; Mariko Harada-Shiba; Gloria Hastings; G. Kees Hovingh; Maria C. Izar; Allison Jamison; Gunnar N. Karlsson; Meral Kayikçioǧlu; Sue Koob; Masahiro Koseki; Stacey Lane; Marcos M. Lima-Martinez; Greizy López; Tania L. 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; 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 Sijbrands; Daniel Soffer; Claudia Stefanutti; Mario Stoll; Rody G. Sy; Martha L. Tamayo; Myra K. Tilney; Lale Tokgözoǧlu; Brian Tomlinson; Antonio J. Vallejo-Vaz; Alejandra Vazquez-Cárdenas; Patrícia Vieira De Luca; David S. Wald; Gerald F. Watts; Nanette K. Wenger; Michaela Wolf; David Wood; Aram Zegerius; Thomas A. Gaziano; Samuel S. Gidding

doi:10.1001/jamacardio.2019.5173

Reducing the Clinical and Public Health Burden of Familial Hypercholesterolemia: A Global Call to Action

Katherine A. Wilemon, Jasmine Patel, Carlos Aguilar-Salinas, Catherine D. Ahmed, Mutaz Alkhnifsawi, Wael Almahmeed, Rodrigo Alonso, Khalid Al-Rasadi, Lina Badimon, Luz M. Bernal, Martin P. Bogsrud, Lynne T. Braun, Liam Brunham, Alberico L. Catapano, Kristyna Čillíková, Pablo Corral, Regina Cuevas, Joep C. Defesche, Olivier S. Descamps, Sarah De FerrantiJean Luc Eiselé, Gerardo Elikir, Emanuela Folco, Tomas Freiberger, Francesco Fuggetta, Isabel M. Gaspar, Ákos G. Gesztes, Urh Grošelj, Ian Hamilton-Craig, Gabriele Hanauer-Mader, Mariko Harada-Shiba, Gloria Hastings, G. Kees Hovingh, Maria C. Izar, Allison Jamison, Gunnar N. Karlsson, Meral Kayikçioǧlu, Sue Koob, Masahiro Koseki, Stacey Lane, Marcos M. Lima-Martinez, Greizy López, Tania L. 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, 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 Sijbrands, Daniel Soffer, Claudia Stefanutti, Mario Stoll, Rody G. Sy, Martha L. Tamayo, Myra K. Tilney, Lale Tokgözoǧlu, Brian Tomlinson, Antonio J. Vallejo-Vaz, Alejandra Vazquez-Cárdenas, Patrícia Vieira De Luca, David S. Wald, Gerald F. Watts, Nanette K. Wenger, Michaela Wolf, David Wood, Aram Zegerius, Thomas A. Gaziano, Samuel S. Gidding^*

^*Corresponding author for this work

Research output: Contribution to journal › Review article › peer-review

117 Citations (SciVal)

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.

Original language	English
Pages (from-to)	217-229
Number of pages	13
Journal	JAMA Cardiology
Volume	5
Issue number	2
DOIs	https://doi.org/10.1001/jamacardio.2019.5173
Publication status	Published - Feb 2020
Externally published	Yes

ASJC Scopus subject areas

Cardiology and Cardiovascular Medicine

Access to Document

10.1001/jamacardio.2019.5173

Cite this

Wilemon, K. A., Patel, J., Aguilar-Salinas, C., Ahmed, C. D., Alkhnifsawi, M., Almahmeed, W., Alonso, R., Al-Rasadi, K., Badimon, L., Bernal, L. M., Bogsrud, M. P., Braun, L. T., Brunham, L., Catapano, A. L., Čillíková, K., Corral, P., Cuevas, R., Defesche, J. C., Descamps, O. S., ... Gidding, S. S. (2020). Reducing the Clinical and Public Health Burden of Familial Hypercholesterolemia: A Global Call to Action. JAMA Cardiology, 5(2), 217-229. https://doi.org/10.1001/jamacardio.2019.5173

Wilemon, KA, Patel, J, Aguilar-Salinas, C, Ahmed, CD, Alkhnifsawi, M, Almahmeed, W, Alonso, R, Al-Rasadi, K, Badimon, L, Bernal, LM, Bogsrud, MP, Braun, LT, Brunham, L, Catapano, AL, Čillíková, K, Corral, P, Cuevas, R, Defesche, JC, Descamps, OS, De Ferranti, S, Eiselé, JL, Elikir, G, Folco, E, Freiberger, T, Fuggetta, F, Gaspar, IM, Gesztes, ÁG, Grošelj, U, Hamilton-Craig, I, Hanauer-Mader, G, Harada-Shiba, M, Hastings, G, Hovingh, GK, Izar, MC, Jamison, A, Karlsson, GN, Kayikçioǧlu, M, Koob, S, Koseki, M, Lane, S, Lima-Martinez, MM, López, G, Martinez, TL, Marais, D, Marion, L, Mata, P, Maurina, I, Maxwell, D, Mehta, R, Mensah, GA, Miserez, AR, Neely, D, Nicholls, SJ, Nohara, A, Nordestgaard, BG, Ose, L, Pallidis, A, Pang, J, Payne, J, Peterson, AL, Popescu, MP, Puri, R, Ray, KK, Reda, A, Sampietro, T, Santos, RD, Schalkers, I, Schreier, L, Shapiro, MD, Sijbrands, E, Soffer, D, Stefanutti, C, Stoll, M, Sy, RG, Tamayo, ML, Tilney, MK, Tokgözoǧlu, L, Tomlinson, B, Vallejo-Vaz, AJ, Vazquez-Cárdenas, A, De Luca, PV, Wald, DS, Watts, GF, Wenger, NK, Wolf, M, Wood, D, Zegerius, A, Gaziano, TA & Gidding, SS 2020, 'Reducing the Clinical and Public Health Burden of Familial Hypercholesterolemia: A Global Call to Action', JAMA Cardiology, vol. 5, no. 2, pp. 217-229. https://doi.org/10.1001/jamacardio.2019.5173

@article{13dc77ee71b44bd180f664f9334498b2,

title = "Reducing the Clinical and Public Health Burden of Familial Hypercholesterolemia: A Global Call to Action",

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.",

author = "Wilemon, {Katherine A.} and Jasmine Patel and Carlos Aguilar-Salinas and Ahmed, {Catherine D.} and Mutaz Alkhnifsawi and Wael Almahmeed and Rodrigo Alonso and Khalid Al-Rasadi and Lina Badimon and Bernal, {Luz M.} and Bogsrud, {Martin P.} and Braun, {Lynne T.} and Liam Brunham and Catapano, {Alberico L.} and Kristyna {\v C}ill{\'i}kov{\'a} and Pablo Corral and Regina Cuevas and Defesche, {Joep C.} and Descamps, {Olivier S.} and {De Ferranti}, Sarah and Eisel{\'e}, {Jean Luc} and Gerardo Elikir and Emanuela Folco and Tomas Freiberger and Francesco Fuggetta and Gaspar, {Isabel M.} and Gesztes, {{\'A}kos G.} and Urh Gro{\v s}elj and Ian Hamilton-Craig and Gabriele Hanauer-Mader and Mariko Harada-Shiba and Gloria Hastings and Hovingh, {G. Kees} and Izar, {Maria C.} and Allison Jamison and Karlsson, {Gunnar N.} and Meral Kayik{\c c}ioǧlu and Sue Koob and Masahiro Koseki and Stacey Lane and Lima-Martinez, {Marcos M.} and Greizy L{\'o}pez and Martinez, {Tania L.} and David Marais and Letrillart Marion and Pedro Mata and Inese Maurina and Diana Maxwell and Roopa Mehta and Mensah, {George A.} and Miserez, {Andr{\'e} R.} and Dermot Neely and Nicholls, {Stephen J.} and Atsushi Nohara and Nordestgaard, {B{\o}rge G.} and Leiv Ose and Athanasios Pallidis and Jing Pang and Jules Payne and Peterson, {Amy L.} and Popescu, {Monica P.} and Raman Puri and Ray, {Kausik K.} and Ashraf Reda and Tiziana Sampietro and Santos, {Raul D.} and Inge Schalkers and Laura Schreier and Shapiro, {Michael D.} and Eric Sijbrands and Daniel Soffer and Claudia Stefanutti and Mario Stoll and Sy, {Rody G.} and Tamayo, {Martha L.} and Tilney, {Myra K.} and Lale Tokg{\"o}zoǧlu and Brian Tomlinson and Vallejo-Vaz, {Antonio J.} and Alejandra Vazquez-C{\'a}rdenas and {De Luca}, {Patr{\'i}cia Vieira} and Wald, {David S.} and Watts, {Gerald F.} and Wenger, {Nanette K.} and Michaela Wolf and David Wood and Aram Zegerius and Gaziano, {Thomas A.} and Gidding, {Samuel S.}",

note = "Funding Information: Table 1. Examples of Government Funding for FH Care, Research, Regulation of Payer Structure, and Support for Education Funding Information: • Dutch government funded cascade screening; thereafter, FH screening became part of regular care and has been reimbursed by the insurance companies; government terminated funding by 2014 with decline in program efficacy • Full reimbursement of LLTs: all statins (all doses), ezetimibe, and PCSK9 inhibitors for patients with FH • Full lipid clinic network covering the entire country • Genetic testing for FH and other genetic dyslipidemias • Genetic cascade testing organization and national FH registry financed by the Department of Clinical Genetics at Amsterdam University Medical Center Funding Information: Table 1. Examples of Government Funding for FH Care, Research, Regulation of Payer Structure, and Support for Education (continued) Funding Information: Drs Patel and Ahmed reported being salaried employees of the Familial Hypercholesterolemia (FH) Foundation. Dr Alonso reported receiving personal fees from Amgen, Aegerion, Novo Nordisk, and Sanofi; personal fees from Tecnofarma; and nonfinancial support from the FH Foundation and Familial Hypercholesterolaemia Studies Collaboration European Atherosclerosis Society outside the submitted work. Dr Al-Rasadi reported receiving grants from Sanofi, Abbott, and Pfizer. Dr Badimon reported serving on the advisory board of Sanofi. Dr Brunham reported serving on the advisory boards of Amgen and Sanofi. Dr Catapano reported receiving grants from Pfizer, Merck, Sanofi, Regeneron, Mediolanum, and Amgen; nonfinancial support from SigmaTau, Menarini, Kowa, Recordati, and Eli Lilly; and personal fees from Merck, Sanofi, Regeneron, Pfizer, AstraZeneca, Amgen, Sigma Tau, Recordati, Aegerion, Kowa, Menarini, Eli Lilly, Amryt, Medco, and Genzyme outside the submitted work. Dr Corral reported receiving grants and personal fees from Amgen and Sanofi and personal fees from Boehringer Ingelheim outside the submitted work. Dr Descamps reported receiving grants and personal fees from Sanofi, Amgen, and Merck outside the submitted work. Dr Eisel{\'e} reported receiving grants from Amgen and Sanofi during the conduct of the study, and grants from Novartis, Pfizer, Bristol-Myers Squibb, AstraZeneca, Boehringer Ingelheim, Manulife, Philips, Access Accelerated, Medtronics, and Edwards outside the submitted work. Dr Elikir reported receiving nonfinancial support from the FH Foundation and Sanofi during the conduct of the study; personal fees from Aegerion Pharmaceuticals and Eurofarma; and nonfinancial support from Teva Pharmaceutical Industries Ltd and Sanofi outside the submitted work. Dr Freiberger reported receiving grants from the Ministry of Health, Czech Republic, and personal fees from Sanofi and from Amgen outside the submitted work. Dr Gesztes reported receiving grants from Amgen and Sanofi outside the submitted work. Dr Harada-Shiba reported receiving grants and personal fees from Amgen Astellas Biopharma and Sanofi; grants from Takeda, Kaneka Medics, Aegerion, and Recordati; personal fees from Kowa and Daiichi Sankyo during the conduct of the study; and serving as an unpaid board member for Liid Pharm outside the submitted work. Dr Hovingh has served as consultant and speaker for biotech and pharmaceutical companies that develop molecules that influence lipoprotein metabolism, including Regeneron, Pfizer, MSD, Sanofi, and Amgen, and serving as principal investigator for clinical trials conducted with Amgen, Sanofi, Eli Lilly, Novartis, Kowa, Genzyme, Pfizer, Decima, and AstraZeneca. The Amsterdam University Medical Center Department of Vascular Medicine receives honoraria and investigator fees for sponsor-driven studies/lectures. Since April 2019, Dr Hovingh has been employed part-time by Novo Nordisk and Amsterdam University Medical Center. Dr Izar reported receiving personal fees and nonfinancial support from Amgen and Sanofi; nonfinancial support from AstraZeneca, and personal fees from Abbott outside the submitted work. Dr Kayik{\c c}ioğlu reported receiving grants from Amryt Pharma, Abbott, Recordati, and Regeneron during the conduct of the study; and grants from Pfizer Novo Nordisk outside the submitted work. Dr Koseki reported receiving grants and personal fees from Kowa; grants from Rohto; and personal fees from Merck Sharp & Dohme, Sanofi, and Amgen Astellas BioPharma outside the submitted work. Dr Marais reported receiving grants from the FH Foundation during the conduct of the study, serving as an investigator in pharmaceutical trials undertaken at the university, providing paid consultation for pharmaceutical companies more than 2 years ago. Dr Mata reported receiving research grants from Amgen and Sanofi and personal fees from Amgen outside the submitted work. Dr Neely reported receiving personal fees from Amgen, Sanofi Regeneron, Novartis, and Akcea outside the submitted work. Dr Nicholls reported receiving grants from AstraZeneca, Amgen, Anthera, Eli Lilly, Esperion, Novartis, Cerenis, The Medicines Company, Resverlogix, InfraReDx, Roche, Sanofi Regeneron, and LipoScience, and personal fees from AstraZeneca, Akcea, Eli Lilly, Anthera, Omthera, Merck, Takeda, Resverlogix, Sanofi Regeneron, CSL Behring, Esperion, and Boehringer Ingelheim during the conduct of the study. Dr Nohara reported receiving personal fees from Sanofi KK, Amgen Astellas Biopharma, and Aegerion Pharmaceuticals outside the submitted work. Dr Pallidis reported grants and nonfinancial support from Sanofi and grants and nonfinancial support from Amgen outside the submitted work. Dr Payne reported receiving grants from Amgen, Sanofi, Amryt, Akcea Therapeutics, Fresenius Medical Care, Novo Nordisk, BHR Pharmaceuticals, Eurofins Biomnis, Linc Medical, Merck Sharp & Dohme, Bayer, and Alexion Pharma during the conduct of the study; and grants from Amgen, Sanofi, Amryt, Akcea Therapeutics, Fresenius Medical Care, Novo Nordisk, BHR Pharmaceuticals, Eurofins Biomnis, Linc Medical, Merck Sharp & Dohme, Bayer, and Alexion Pharma outside the submitted work. Dr Ray reported receiving grants and personal fees from Amgen, Sanofi, Regeneron, Pfizer, and Merck Sharp & Dohme; personal fees from AbbVie, The Medicines Company, Esperion, Kowa, Cerenis, Bayer, Daiichi Sankyo, Silence Therapeutics, Akcea, Zuelling Pharma, Cipla, Dr Reddy{\textquoteright}s, Novo Nordisk, AstraZeneca, Boehringer Ingelheim, and Takeda outside the submitted work. Dr Santos reported receiving personal fees from Amgen, AstraZeneca, Akcea, Kowa, Merck, Novo Nordisk, Esperion, Merck Sharp & Dohme, Sanofi/ Regeneron, and Biolab outside the submitted work. Dr Schreier reported receiving grants from Amgen and personal fees and nonfinancial support from Sanofi during the conduct of the study. Dr Shapiro reported receiving grants from the National Institutes of Health outside the submitted work, serving as an unpaid member of the scientific advisory board of Esperion and consultant for Amarin, and has received support from the FH Foundation as an investigator in the FH CASCADE Registry. Dr Sijbrands reported receiving grants from Amgen, Netherlands Heart Foundation, Dutch Health Care Authority, and Pfizer during the conduct of the study. Dr Soffer reported receiving compensation for serving on advisory boards for Medicure, Amgen Inc, and Regeneron; speaking fees from Amgen Inc, Akcea Therapeutics, and Sanofi; and participating in clinical trials (paid to the institution) from Novartis, Regenx Bio, AstraZeneca, Regeneron, Amgen Inc, and Akcea Therapeutics during the conduct of the study; and providing paid continuing medical education (CME) presentations for the National Lipid Association, Horizon CME, and Catalyst CME. Dr Sy reported receiving grants and personal fees from MSD Philippines and Sanofi, personal fees from Amgen outside the submitted work; OEP for lecture honorarium; payment for serving on the advisory board for Boehringer Ingelheim; and lecture honorarium from Servier Philippines. Dr Tilney reported receiving personal fees from Sanofi outside the submitted work. Dr Tokg{\"o}zoğlu reported receiving personal fees from Amgen, Abbott, Bayer, Merck Sharp & Dohme, Mylan, Pfizer, Recordati, Sanofi, Servier, and Actelion outside the submitted work. Dr Tomlinson reported receiving personal fees from Amgen Inc, Dr Reddy's Laboratories Ltd, Kowa, and Merck Sharp & Dohme, and grants from Pfizer Inc and Roche outside the submitted work. Dr Vallejo-Vaz reported receiving honoraria for lectures from Amgen, Mylan, and Akcea; nonfinancial support from Regeneron Pharmaceuticals, Inc; and participation in research grants from Amgen, Sanofi, Merck Sharp & Dohme, and Pfizer to the Imperial College London/ European Atherosclerosis Society outside the submitted work. Ms Vieira de Luca reported receiving grants from Amgen, Sanofi, AstraZeneca, and Merck; and nonfinancial support from MedLevensohn, MexGlobal, and Roche Diagnostics outside the submitted work. Dr Watts reported receiving grants and personal fees from Amgen and Sanofi Regeneron; grants from Novartis; and personal fees from Gemphire and Kowa outside the submitted work. Dr Wolf reported receiving grants from Lipid Liga eV, Sanofi GmbH, Diamed GmbH, Amgen GmbH, Fresenius Medical GmbH, and AstraZeneca GmbH during the conduct of the study. Dr Gidding reported receiving grants from Amgen and Sanofi Regeneron during the conduct of the study. No other disclosures were reported. Publisher Copyright: {\textcopyright} 2019 American Medical Association. All rights reserved. Copyright: Copyright 2020 Elsevier B.V., All rights reserved.",

year = "2020",

month = feb,

doi = "10.1001/jamacardio.2019.5173",

language = "English",

volume = "5",

pages = "217--229",

journal = "JAMA Cardiology",

issn = "2380-6583",

publisher = "American Medical Association",

number = "2",

}

TY - JOUR

T1 - Reducing the Clinical and Public Health Burden of Familial Hypercholesterolemia

T2 - A Global Call to Action

AU - Wilemon, Katherine A.

AU - Patel, Jasmine

AU - Aguilar-Salinas, Carlos

AU - Ahmed, Catherine D.

AU - Alkhnifsawi, Mutaz

AU - Almahmeed, Wael

AU - Alonso, Rodrigo

AU - Al-Rasadi, Khalid

AU - Badimon, Lina

AU - Bernal, Luz M.

AU - Bogsrud, Martin P.

AU - Braun, Lynne T.

AU - Brunham, Liam

AU - Catapano, Alberico L.

AU - Čillíková, Kristyna

AU - Corral, Pablo

AU - Cuevas, Regina

AU - Defesche, Joep C.

AU - Descamps, Olivier S.

AU - De Ferranti, Sarah

AU - Eiselé, Jean Luc

AU - Elikir, Gerardo

AU - Folco, Emanuela

AU - Freiberger, Tomas

AU - Fuggetta, Francesco

AU - Gaspar, Isabel M.

AU - Gesztes, Ákos G.

AU - Grošelj, Urh

AU - Hamilton-Craig, Ian

AU - Hanauer-Mader, Gabriele

AU - Harada-Shiba, Mariko

AU - Hastings, Gloria

AU - Hovingh, G. Kees

AU - Izar, Maria C.

AU - Jamison, Allison

AU - Karlsson, Gunnar N.

AU - Kayikçioǧlu, Meral

AU - Koob, Sue

AU - Koseki, Masahiro

AU - Lane, Stacey

AU - Lima-Martinez, Marcos M.

AU - López, Greizy

AU - Martinez, Tania L.

AU - Marais, David

AU - Marion, Letrillart

AU - Mata, Pedro

AU - Maurina, Inese

AU - Maxwell, Diana

AU - Mehta, Roopa

AU - Mensah, George A.

AU - Miserez, André R.

AU - Neely, Dermot

AU - Nicholls, Stephen J.

AU - Nohara, Atsushi

AU - Nordestgaard, Børge G.

AU - Ose, Leiv

AU - Pallidis, Athanasios

AU - Pang, Jing

AU - Payne, Jules

AU - Peterson, Amy L.

AU - Popescu, Monica P.

AU - Puri, Raman

AU - Ray, Kausik K.

AU - Reda, Ashraf

AU - Sampietro, Tiziana

AU - Santos, Raul D.

AU - Schalkers, Inge

AU - Schreier, Laura

AU - Shapiro, Michael D.

AU - Sijbrands, Eric

AU - Soffer, Daniel

AU - Stefanutti, Claudia

AU - Stoll, Mario

AU - Sy, Rody G.

AU - Tamayo, Martha L.

AU - Tilney, Myra K.

AU - Tokgözoǧlu, Lale

AU - Tomlinson, Brian

AU - Vallejo-Vaz, Antonio J.

AU - Vazquez-Cárdenas, Alejandra

AU - De Luca, Patrícia Vieira

AU - Wald, David S.

AU - Watts, Gerald F.

AU - Wenger, Nanette K.

AU - Wolf, Michaela

AU - Wood, David

AU - Zegerius, Aram

AU - Gaziano, Thomas A.

AU - Gidding, Samuel S.

N1 - Funding Information: Table 1. Examples of Government Funding for FH Care, Research, Regulation of Payer Structure, and Support for Education Funding Information: • Dutch government funded cascade screening; thereafter, FH screening became part of regular care and has been reimbursed by the insurance companies; government terminated funding by 2014 with decline in program efficacy • Full reimbursement of LLTs: all statins (all doses), ezetimibe, and PCSK9 inhibitors for patients with FH • Full lipid clinic network covering the entire country • Genetic testing for FH and other genetic dyslipidemias • Genetic cascade testing organization and national FH registry financed by the Department of Clinical Genetics at Amsterdam University Medical Center Funding Information: Table 1. Examples of Government Funding for FH Care, Research, Regulation of Payer Structure, and Support for Education (continued) Funding Information: Drs Patel and Ahmed reported being salaried employees of the Familial Hypercholesterolemia (FH) Foundation. Dr Alonso reported receiving personal fees from Amgen, Aegerion, Novo Nordisk, and Sanofi; personal fees from Tecnofarma; and nonfinancial support from the FH Foundation and Familial Hypercholesterolaemia Studies Collaboration European Atherosclerosis Society outside the submitted work. Dr Al-Rasadi reported receiving grants from Sanofi, Abbott, and Pfizer. Dr Badimon reported serving on the advisory board of Sanofi. Dr Brunham reported serving on the advisory boards of Amgen and Sanofi. Dr Catapano reported receiving grants from Pfizer, Merck, Sanofi, Regeneron, Mediolanum, and Amgen; nonfinancial support from SigmaTau, Menarini, Kowa, Recordati, and Eli Lilly; and personal fees from Merck, Sanofi, Regeneron, Pfizer, AstraZeneca, Amgen, Sigma Tau, Recordati, Aegerion, Kowa, Menarini, Eli Lilly, Amryt, Medco, and Genzyme outside the submitted work. Dr Corral reported receiving grants and personal fees from Amgen and Sanofi and personal fees from Boehringer Ingelheim outside the submitted work. Dr Descamps reported receiving grants and personal fees from Sanofi, Amgen, and Merck outside the submitted work. Dr Eiselé reported receiving grants from Amgen and Sanofi during the conduct of the study, and grants from Novartis, Pfizer, Bristol-Myers Squibb, AstraZeneca, Boehringer Ingelheim, Manulife, Philips, Access Accelerated, Medtronics, and Edwards outside the submitted work. Dr Elikir reported receiving nonfinancial support from the FH Foundation and Sanofi during the conduct of the study; personal fees from Aegerion Pharmaceuticals and Eurofarma; and nonfinancial support from Teva Pharmaceutical Industries Ltd and Sanofi outside the submitted work. Dr Freiberger reported receiving grants from the Ministry of Health, Czech Republic, and personal fees from Sanofi and from Amgen outside the submitted work. Dr Gesztes reported receiving grants from Amgen and Sanofi outside the submitted work. Dr Harada-Shiba reported receiving grants and personal fees from Amgen Astellas Biopharma and Sanofi; grants from Takeda, Kaneka Medics, Aegerion, and Recordati; personal fees from Kowa and Daiichi Sankyo during the conduct of the study; and serving as an unpaid board member for Liid Pharm outside the submitted work. Dr Hovingh has served as consultant and speaker for biotech and pharmaceutical companies that develop molecules that influence lipoprotein metabolism, including Regeneron, Pfizer, MSD, Sanofi, and Amgen, and serving as principal investigator for clinical trials conducted with Amgen, Sanofi, Eli Lilly, Novartis, Kowa, Genzyme, Pfizer, Decima, and AstraZeneca. The Amsterdam University Medical Center Department of Vascular Medicine receives honoraria and investigator fees for sponsor-driven studies/lectures. Since April 2019, Dr Hovingh has been employed part-time by Novo Nordisk and Amsterdam University Medical Center. Dr Izar reported receiving personal fees and nonfinancial support from Amgen and Sanofi; nonfinancial support from AstraZeneca, and personal fees from Abbott outside the submitted work. Dr Kayikçioğlu reported receiving grants from Amryt Pharma, Abbott, Recordati, and Regeneron during the conduct of the study; and grants from Pfizer Novo Nordisk outside the submitted work. Dr Koseki reported receiving grants and personal fees from Kowa; grants from Rohto; and personal fees from Merck Sharp & Dohme, Sanofi, and Amgen Astellas BioPharma outside the submitted work. Dr Marais reported receiving grants from the FH Foundation during the conduct of the study, serving as an investigator in pharmaceutical trials undertaken at the university, providing paid consultation for pharmaceutical companies more than 2 years ago. Dr Mata reported receiving research grants from Amgen and Sanofi and personal fees from Amgen outside the submitted work. Dr Neely reported receiving personal fees from Amgen, Sanofi Regeneron, Novartis, and Akcea outside the submitted work. Dr Nicholls reported receiving grants from AstraZeneca, Amgen, Anthera, Eli Lilly, Esperion, Novartis, Cerenis, The Medicines Company, Resverlogix, InfraReDx, Roche, Sanofi Regeneron, and LipoScience, and personal fees from AstraZeneca, Akcea, Eli Lilly, Anthera, Omthera, Merck, Takeda, Resverlogix, Sanofi Regeneron, CSL Behring, Esperion, and Boehringer Ingelheim during the conduct of the study. Dr Nohara reported receiving personal fees from Sanofi KK, Amgen Astellas Biopharma, and Aegerion Pharmaceuticals outside the submitted work. Dr Pallidis reported grants and nonfinancial support from Sanofi and grants and nonfinancial support from Amgen outside the submitted work. Dr Payne reported receiving grants from Amgen, Sanofi, Amryt, Akcea Therapeutics, Fresenius Medical Care, Novo Nordisk, BHR Pharmaceuticals, Eurofins Biomnis, Linc Medical, Merck Sharp & Dohme, Bayer, and Alexion Pharma during the conduct of the study; and grants from Amgen, Sanofi, Amryt, Akcea Therapeutics, Fresenius Medical Care, Novo Nordisk, BHR Pharmaceuticals, Eurofins Biomnis, Linc Medical, Merck Sharp & Dohme, Bayer, and Alexion Pharma outside the submitted work. Dr Ray reported receiving grants and personal fees from Amgen, Sanofi, Regeneron, Pfizer, and Merck Sharp & Dohme; personal fees from AbbVie, The Medicines Company, Esperion, Kowa, Cerenis, Bayer, Daiichi Sankyo, Silence Therapeutics, Akcea, Zuelling Pharma, Cipla, Dr Reddy’s, Novo Nordisk, AstraZeneca, Boehringer Ingelheim, and Takeda outside the submitted work. Dr Santos reported receiving personal fees from Amgen, AstraZeneca, Akcea, Kowa, Merck, Novo Nordisk, Esperion, Merck Sharp & Dohme, Sanofi/ Regeneron, and Biolab outside the submitted work. Dr Schreier reported receiving grants from Amgen and personal fees and nonfinancial support from Sanofi during the conduct of the study. Dr Shapiro reported receiving grants from the National Institutes of Health outside the submitted work, serving as an unpaid member of the scientific advisory board of Esperion and consultant for Amarin, and has received support from the FH Foundation as an investigator in the FH CASCADE Registry. Dr Sijbrands reported receiving grants from Amgen, Netherlands Heart Foundation, Dutch Health Care Authority, and Pfizer during the conduct of the study. Dr Soffer reported receiving compensation for serving on advisory boards for Medicure, Amgen Inc, and Regeneron; speaking fees from Amgen Inc, Akcea Therapeutics, and Sanofi; and participating in clinical trials (paid to the institution) from Novartis, Regenx Bio, AstraZeneca, Regeneron, Amgen Inc, and Akcea Therapeutics during the conduct of the study; and providing paid continuing medical education (CME) presentations for the National Lipid Association, Horizon CME, and Catalyst CME. Dr Sy reported receiving grants and personal fees from MSD Philippines and Sanofi, personal fees from Amgen outside the submitted work; OEP for lecture honorarium; payment for serving on the advisory board for Boehringer Ingelheim; and lecture honorarium from Servier Philippines. Dr Tilney reported receiving personal fees from Sanofi outside the submitted work. Dr Tokgözoğlu reported receiving personal fees from Amgen, Abbott, Bayer, Merck Sharp & Dohme, Mylan, Pfizer, Recordati, Sanofi, Servier, and Actelion outside the submitted work. Dr Tomlinson reported receiving personal fees from Amgen Inc, Dr Reddy's Laboratories Ltd, Kowa, and Merck Sharp & Dohme, and grants from Pfizer Inc and Roche outside the submitted work. Dr Vallejo-Vaz reported receiving honoraria for lectures from Amgen, Mylan, and Akcea; nonfinancial support from Regeneron Pharmaceuticals, Inc; and participation in research grants from Amgen, Sanofi, Merck Sharp & Dohme, and Pfizer to the Imperial College London/ European Atherosclerosis Society outside the submitted work. Ms Vieira de Luca reported receiving grants from Amgen, Sanofi, AstraZeneca, and Merck; and nonfinancial support from MedLevensohn, MexGlobal, and Roche Diagnostics outside the submitted work. Dr Watts reported receiving grants and personal fees from Amgen and Sanofi Regeneron; grants from Novartis; and personal fees from Gemphire and Kowa outside the submitted work. Dr Wolf reported receiving grants from Lipid Liga eV, Sanofi GmbH, Diamed GmbH, Amgen GmbH, Fresenius Medical GmbH, and AstraZeneca GmbH during the conduct of the study. Dr Gidding reported receiving grants from Amgen and Sanofi Regeneron during the conduct of the study. No other disclosures were reported. Publisher Copyright: © 2019 American Medical Association. All rights reserved. Copyright: Copyright 2020 Elsevier B.V., All rights reserved.

PY - 2020/2

Y1 - 2020/2

N2 - 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.

AB - 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.

UR - http://www.scopus.com/inward/record.url?scp=85077602883&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=85077602883&partnerID=8YFLogxK

U2 - 10.1001/jamacardio.2019.5173

DO - 10.1001/jamacardio.2019.5173

M3 - Review article

C2 - 31895433

AN - SCOPUS:85077602883

SN - 2380-6583

VL - 5

SP - 217

EP - 229

JO - JAMA Cardiology

JF - JAMA Cardiology

IS - 2

ER -

Reducing the Clinical and Public Health Burden of Familial Hypercholesterolemia: A Global Call to Action

Abstract

ASJC Scopus subject areas

Access to Document

Other files and links

Fingerprint

Cite this