International Atherosclerosis Society Roadmap for Familial Hypercholesterolaemia

Gerald F Watts; Laney K Jones; Mitchell N Sarkies; Jing Pang; Samuel S Gidding; Peter Libby; Raul D Santos

doi:10.5334/gh.1291

International Atherosclerosis Society Roadmap for Familial Hypercholesterolaemia

Glob Heart. 2024 Jan 25;19(1):12. doi: 10.5334/gh.1291. eCollection 2024.

Authors

Gerald F Watts^{1

2}, Laney K Jones³, Mitchell N Sarkies⁴, Jing Pang¹, Samuel S Gidding³, Peter Libby⁵, Raul D Santos⁶

Affiliations

¹ School of Medicine, University of Western Australia, Perth, Western Australia, Australia.
² Departments of Cardiology and Internal Medicine, Royal Perth Hospital, Perth, Western Australia, Australia.
³ Department of Genomic Health, Geisinger, Danville PA, USA.
⁴ School of Health Sciences, Faculty of Medicine and Health, University of Sydney, Sydney, New South Wales, Australia.
⁵ Division of Cardiovascular Medicine, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston MA, USA.
⁶ Lipid Clinic, Heart Institute (InCor), University of São Paulo, São Paulo, Brazil and Hospital Israelita Albert Einstein, São Paulo, Brazil.

Abstract

Familial hypercholesterolaemia (FH), a common monogenic disorder, is a preventable cause of premature coronary artery disease and death. Up to 35 million people worldwide have FH, but most remain undetected and undertreated. Several clinical guidelines have addressed the gaps in care of FH, but little focus has been given to implementation science and practice. The International Atherosclerosis Society (IAS) has developed an evidence-informed guidance for the detection and management of patients with FH, supplemented with implementation strategies to optimize contextual models of care. The guidance is partitioned into detection, management and implementation sections. Detection deals with screening, diagnosis, genetic testing and counselling. Management includes risk stratification, treatment of adults and children with heterozygous and homozygous FH, management of FH during pregnancy, and use of lipoprotein apheresis. Specific and general implementation strategies, guided by processes specified by the Expert Recommendations for Implementing Change taxonomy, are provided. Core generic implementation strategies are given for improving care. Nation-specific cholesterol awareness campaigns should be utilized to promote better detection of FH. Integrated models of care should be underpinned by health policy and adapted to meet local, regional and national needs. Clinical centres of excellence are important for taking referrals from the community. General practitioners should work seamlessly with multidisciplinary teams. All health-care providers must receive training in essential skills for caring for patients and families with FH. Management should be supported by shared decision-making and service improvement driven by patient-reported outcomes. Improvements in services require sharing of existing resources that can support care. Advocacy should be utilized to ensure sustainable funding. Digital health technologies and clinical quality registries have special value. Finally, academic-service partnerships need to be developed to identify gaps in care and set priorities for research. This new IAS guidance on FH complements the recent World Heart Federation Cholesterol Roadmap.

Keywords: familial hypercholesterolaemia; guidance; implementation practice; implementation strategies; international; roadmap.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Adult
Atherosclerosis* / diagnosis
Atherosclerosis* / prevention & control
Child
Cholesterol
Counseling
Female
Genetic Testing
Humans
Hyperlipoproteinemia Type II* / diagnosis
Hyperlipoproteinemia Type II* / epidemiology
Hyperlipoproteinemia Type II* / genetics
Pregnancy

Substances

Cholesterol

Grants and funding

G.F.W. has received honoraria related to consulting, research and/or speaker activities from Amgen, Arrowhead, AstraZeneca, CRISPR Therapeutics, Esperion, Novartis and Sanofi. L.K.J. is a consultant for Novartis. M.N.S. has received personal fees from Amgen. J.P. has received grants from the National Health and Medical Research Council (NHMRC, Australia), the Medical Research Future Fund (MRRF, Australia), the Department of Health of Western Australia and the Royal Perth Hospital Research Foundation. S.S.G. is a consultant for Esperion and on a scientific advisory panel for Silence Therapeutics. P.L. has received research funding from Novartis; is on the Board of Directors of XBiotech; has a financial interest in Soley Therapeutics, TenSixteen Bio and XBiotech; 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, Norvo 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, Moderna, Novartis, PlaqueTec, Soley Thereapeutics, TenSixteen Bio and XBiotech. 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, MSD, Pfizer, PTC Therapeutics and Sanofi/Regeneron.