Implementation strategies for improving the care of familial hypercholesterolaemia from the International Atherosclerosis Society: next steps in implementation science and practice

Mitchell N Sarkies^{1

2}, Gerald F Watts^{3

4}, Samuel S Gidding⁵, Raul D Santos^{6

7}, Robert A Hegele⁸, Frederick J Raal⁹, Amy C Sturm¹⁰, Khalid Al-Rasadi¹¹, Dirk J Blom¹², Magdalena Daccord¹³, Sarah D de Ferranti¹⁴, Emanuela Folco¹⁵, Peter Libby¹⁶, Pedro Mata¹⁷, Hapizah M Nawawi^{18

19}, Uma Ramaswami²⁰, Kausik K Ray²¹, Shizuya Yamashita²², Jing Pang³, Gilbert R Thompson²³, Laney K Jones⁵

Affiliations

¹ School of Health Sciences, Faculty of Medicine and Health, University of Sydney, Sydney, NSW, Australia.
² Implementation Science Academy, Sydney Health Partners, University of Sydney, Sydney, NSW, Australia.
³ School of Medicine, University of Western Australia, Perth, WA, Australia.
⁴ Departments of Cardiology and Internal Medicine, Royal Perth Hospital, Perth, WA, Australia.
⁵ Department of Genomic Health, Geisinger, Danville, PA, USA.
⁶ Lipid Clinic, Heart Institute (InCor), University of São Paulo, São Paulo, Brazil.
⁷ Hospital Israelita Albert Einstein, São Paulo, Brazil.
⁸ Department of Medicine and Robarts Research Institute, Schulich School of Medicine, Western University, London, ON, Canada.
⁹ Department of Medicine, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa.
¹⁰ 23andMe, Sunnyvale, CA, USA.
¹¹ Medical Research Centre, College of Medicine and Health Sciences, Sultan Qaboos University, Muscat, Oman.
¹² Division of Lipidology and Cape Heart Institute, Department of Medicine, University of Cape Town, Cape Town, South Africa.
¹³ FH Europe Foundation, Amsterdam, The Netherlands.
¹⁴ Department of Paediatrics, Harvard Medical School, Boston, MA, USA.
¹⁵ International Atherosclerosis Society, Milan, Italy.
¹⁶ Division of Cardiovascular Medicine, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA.
¹⁷ Fundación Hipercolesterolemia Familiar, Madrid, Spain.
¹⁸ Institute of Pathology, Laboratory and Forensic Medicine (I-PPerForM) and Faculty of Medicine, Universiti Teknologi MARA, Sungai Buloh, Selangor, Malaysia.
¹⁹ Specialist Lipid and Coronary Risk Prevention Clinics, Hospital Al-Sultan Abdullah (HASA) and Clinical Training Centre, Puncak Alam and Sungai Buloh Campuses, Universiti Teknologi MARA, Sungai Buloh, Selangor, Malaysia.
²⁰ Royal Free London NHS Foundation Trust, University College London, London, UK.
²¹ Imperial Centre for Cardiovascular Disease Prevention, Imperial College London, London, UK.
²² Department of Cardiology, Rinku General Medical Center, Osaka, Japan.
²³ Hammersmith Hospital, Imperial College London, London, UK.

PMID: 40297674
PMCID: PMC12035916
DOI: 10.1016/j.ajpc.2025.100993

Implementation strategies for improving the care of familial hypercholesterolaemia from the International Atherosclerosis Society: next steps in implementation science and practice

Mitchell N Sarkies et al. Am J Prev Cardiol. 2025.

. 2025 Apr 14:22:100993.

doi: 10.1016/j.ajpc.2025.100993. eCollection 2025 Jun.

Authors

Affiliations

¹ School of Health Sciences, Faculty of Medicine and Health, University of Sydney, Sydney, NSW, Australia.
² Implementation Science Academy, Sydney Health Partners, University of Sydney, Sydney, NSW, Australia.
³ School of Medicine, University of Western Australia, Perth, WA, Australia.
⁴ Departments of Cardiology and Internal Medicine, Royal Perth Hospital, Perth, WA, Australia.
⁵ Department of Genomic Health, Geisinger, Danville, PA, USA.
⁶ Lipid Clinic, Heart Institute (InCor), University of São Paulo, São Paulo, Brazil.
⁷ Hospital Israelita Albert Einstein, São Paulo, Brazil.
⁸ Department of Medicine and Robarts Research Institute, Schulich School of Medicine, Western University, London, ON, Canada.
⁹ Department of Medicine, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa.
¹⁰ 23andMe, Sunnyvale, CA, USA.
¹¹ Medical Research Centre, College of Medicine and Health Sciences, Sultan Qaboos University, Muscat, Oman.
¹² Division of Lipidology and Cape Heart Institute, Department of Medicine, University of Cape Town, Cape Town, South Africa.
¹³ FH Europe Foundation, Amsterdam, The Netherlands.
¹⁴ Department of Paediatrics, Harvard Medical School, Boston, MA, USA.
¹⁵ International Atherosclerosis Society, Milan, Italy.
¹⁶ Division of Cardiovascular Medicine, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA.
¹⁷ Fundación Hipercolesterolemia Familiar, Madrid, Spain.
¹⁸ Institute of Pathology, Laboratory and Forensic Medicine (I-PPerForM) and Faculty of Medicine, Universiti Teknologi MARA, Sungai Buloh, Selangor, Malaysia.
¹⁹ Specialist Lipid and Coronary Risk Prevention Clinics, Hospital Al-Sultan Abdullah (HASA) and Clinical Training Centre, Puncak Alam and Sungai Buloh Campuses, Universiti Teknologi MARA, Sungai Buloh, Selangor, Malaysia.
²⁰ Royal Free London NHS Foundation Trust, University College London, London, UK.
²¹ Imperial Centre for Cardiovascular Disease Prevention, Imperial College London, London, UK.
²² Department of Cardiology, Rinku General Medical Center, Osaka, Japan.
²³ Hammersmith Hospital, Imperial College London, London, UK.

PMID: 40297674
PMCID: PMC12035916
DOI: 10.1016/j.ajpc.2025.100993

Abstract

Familial hypercholesterolaemia (FH) is the most common monogenic condition associated with premature atherosclerotic cardiovascular disease. Early detection and initiation of cholesterol lowering therapy combined with lifestyle changes improves the prognosis of patients with FH significantly. The International Atherosclerosis Society (IAS) published a new guidance for implementing best practice in the care of FH. Previous guidelines and position statements seldom provided implementation recommendations. To address this, an implementation science approach was used to generate implementation strategies for the clinical recommendations made. This process entailed the generation by consensus of strong implementation recommendations according to the Expert Recommendations for Implementing Change (ERIC) taxonomy. A total of 80 general and specific implementation recommendations were generated, addressing detection (screening, diagnosis, genetic testing and counselling) and management (risk stratification, treatment of adults or children with heterozygous or homozygous FH, therapy during pregnancy and use of apheresis) of patients with FH. We describe here the IAS guidance core implementation strategies to assist with the adoption of clinical recommendations into routine practice for at-risk patients and families worldwide. We summarise the IAS guidance core implementation strategies as operative statements.

Keywords: Cardiovascular disease; Clinical practice guidelines; Coronary artery disease; Genetics; Hypercholesterolaemia; Implementation science; Inherited heart conditions.

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Conflict of interest statement

The authors declare the following financial interests/personal relationships which may be considered as potential competing interests: G.F.W. has received honoraria related to consulting, research and/or speaker activities from Amgen, Arrowhead, AstraZeneca, CRISPR Therapeutics, Esperion, Novartis and Sanofi. S.S.G. is a consultant for Esperion and is on a scientific advisory panel for Silence Therapeutics. R.A.H. has received honoraria related to consulting, research and/or speaker activities from Acasti, Akcea-Ionis, Amgen, Arrowhead, HLS Therapeutics, Pfizer, Novartis and Sanofi/Regeneron. F.J.R. has received personal fees from Amgen, LIB Therapeutics, Novartis, Regeneron and Sanofi-Aventis. A.C.S. is an employee and stockholder of 23andMe and an advisor to Nest Genomics. L.K.J. is a consultant for Novartis. M.N.S. has received personal fees from Amgen. K.A.-R. has received grants and personal fees from Sanofi and personal fees from Abbott and Novartis. D.J.B. has received grants for clinical trials and/or personal fees from Abbott, Akcea, Amgen, Amryt, AstraZeneca, Ionis, LIB Therapeutics, Novartis, Sanofi and Silence Therapeutics. S.D.d.F. has received personal fees from UpToDate. P.L. is an unpaid consultant to, or involved in clinical trials for Amgen, AstraZeneca, Baim Institute, Beren Therapeutics, Esperion Therapeutics, Genentech, Kancera, Kowa Pharmaceuticals, Medimmune, Merck, Moderna, Novo Nordisk, Novartis, Pfizer, and Sanofi-Regeneron; is a member of the scientific advisory board for Amgen, Caristo Diagnostics, Cartesian Therapeutics, CSL Behring, DalCor Pharmaceuticals, Dewpoint Therapeutics, Eulicid Bioimaging, Kancera, Kowa Pharmaceuticals, Olatec Therapeutics, Medimmune, Novartis, PlaqueTec, TenSixteen Bio, Soley Thereapeutics, and XBiotech, Inc; their laboratory has received research funding in the last 2 years from Novartis, Novo Nordisk and Genentech; is on the Board of Directors of XBiotech, Inc.; has a financial interest in Xbiotech, a company developing therapeutic human antibodies, in TenSixteen Bio, a company targeting somatic mosaicism and clonal hematopoiesis of indeterminate potential (CHIP) to discover and develop novel therapeutics to treat age-related diseases, and in Soley Therapeutics, a biotechnology company that is combining artificial intelligence with molecular and cellular response detection for discovering and developing new drugs, currently focusing on cancer therapeutic. P.M. has received grants from Amgen and Sanofi. K.K.R. has received grants from Amgen, Daiichi Sankyo, Regeneron and Sanofi; personal fees for serving on steering committees, executive committees or advisory boards from Abbott, Amgen, AstraZeneca, Bayer, Boehringer Ingelheim, Cargene, CRISPR Therapeutics, CSL Behring, Daiichi Sankyo, Eli Lilly, Esperion, Kowa, New Amsterdam Pharma, Novartis, Novo Nordisk, Sanofi, Scribe, Silence Therapeutics and Vaxxinity; personal fees for CME and non-CME lectures from Amgen, AstraZeneca, Boehringer Ingelheim, Daiichi Sankyo, Novartis, Novo Nordisk, Sanofi and Viatris. S.Y. has received personal fees from Amgen, Kowa Company, Merck Sharp & Dohme, Novartis and Otsuka Pharmaceutical Company. R.D.S. has received honoraria related to consulting, research and/or speaker activities from Abbott, Ache, Amgen, AstraZeneca, EMS, Esperion, GETZ Pharma, Kowa, Libbs, Novartis, Novo-Nordisk, Merck, Merck Sharp & Dohme, Pfizer, PTC Therapeutics and Sanofi/Regeneron. The other authors declare no competing interests. If there are other authors, they declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper.

Figures

Image, graphical abstract — **Graphical abstract**

Fig 1 — **Fig. 1**
Core implementation strategies for improving the care of FH.

See this image and copyright information in PMC

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Implementation strategies for improving the care of familial hypercholesterolaemia from the International Atherosclerosis Society: next steps in implementation science and practice

Affiliations

Implementation strategies for improving the care of familial hypercholesterolaemia from the International Atherosclerosis Society: next steps in implementation science and practice

Authors

Affiliations

Abstract

Conflict of interest statement

Figures

References

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