Developing a national implementation strategy for enhancing the detection of familial hypercholesterolemia: An Australian experience

Mitchell Sarkies; David Sullivan; Andrew Black; Philip Aylward; Karam Kostner; Stephen J Nicholls; Ari Horton; Walter P Abhayaratna; Nadarajah Kangaharan; Jing Pang; Warrick Bishop; Luke Elias; Shubha Srinivasan; Kathryn E Waddell-Smith; Jenny Della-Vedova; Charlotte Hespe; Jane Tiller; Jeffrey Braithwaite; Karen Birkenhead; Gerald F Watts

doi:10.1016/j.jacl.2025.03.004

Developing a national implementation strategy for enhancing the detection of familial hypercholesterolemia: An Australian experience

J Clin Lipidol. 2025 May-Jun;19(3):582-594. doi: 10.1016/j.jacl.2025.03.004. Epub 2025 Mar 20.

Authors

Mitchell Sarkies¹, David Sullivan², Andrew Black³, Philip Aylward⁴, Karam Kostner⁵, Stephen J Nicholls⁶, Ari Horton⁷, Walter P Abhayaratna⁸, Nadarajah Kangaharan⁹, Jing Pang¹⁰, Warrick Bishop¹¹, Luke Elias¹², Shubha Srinivasan¹³, Kathryn E Waddell-Smith¹⁴, Jenny Della-Vedova¹⁵, Charlotte Hespe¹⁶, Jane Tiller¹⁷, Jeffrey Braithwaite¹⁸, Karen Birkenhead¹⁹, Gerald F Watts²⁰

Affiliations

¹ School of Health Sciences, Faculty of Medicine and Health, University of Sydney, Sydney, New South Wales, Australia (Drs Sarkies, Birkenhead); Implementation Science Academy, Sydney Health Partners, University of Sydney, Sydney, New South Wales, Australia (Dr Sarkies); Australian Institute of Health Innovation, Faculty of Health and Human Sciences, Macquarie University, Sydney, New South Wales, Australia (Drs Sarkies, Braithwaite). Electronic address: mitchell.sarkies@sydney.edu.au.
² Department of Chemical Pathology, Royal Prince Alfred Hospital, NSW Health Pathology, Sydney, New South Wales, Australia (Dr Sullivan); Sydney Medical School, Faculty of Medicine and Health, University of Sydney, Sydney, New South Wales, Australia (Dr Sullivan).
³ Menzies Institute for Medical Research, University of Tasmania, Hobart, Tasmania, Australia (Dr Black); Department of Cardiology, Royal Hobart Hospital, Hobart, Tasmania, Australia (Dr Black).
⁴ South Australian Health and Medical Research Institute, Flinders University and Medical Centre, Adelaide, South Australia, Australia (Dr Aylward).
⁵ Department of Cardiology, Mater Hospital, University of Queensland, Brisbane, Queensland, Australia (Dr Kostner).
⁶ Victorian Heart Institute, Monash University, Melbourne, Victoria, Australia (Drs Nicholls, Horton); Victorian Heart Hospital, Melbourne, Victoria, Australia (Drs Nicholls, Horton).
⁷ Victorian Heart Institute, Monash University, Melbourne, Victoria, Australia (Drs Nicholls, Horton); Victorian Heart Hospital, Melbourne, Victoria, Australia (Drs Nicholls, Horton); Monash Children's Hospital, Monash Health, Melbourne, Victoria, Australia (Dr Horton); Monash Cardiovascular Research Centre, Melbourne, Victoria, Australia (Dr Horton); Department of Paediatrics, Monash University, Melbourne, Victoria, Australia (Dr Horton).
⁸ Cardiovascular Medicine, College of Medicine, Biology and Environment, Australian National University, Canberra, Australia (Dr Abhayaratna).
⁹ Department of Cardiology, Royal Darwin Hospital, Darwin, Northern Territory, Australia (Dr Kangaharan); Menzies School of Health Research, Darwin, Northern Territory, Australia (Dr Kangaharan); Northern Territory Medical School, Flinders University, Adelaide, South Australia, Australia (Dr Kangaharan).
¹⁰ School of Medicine, Faculty of Health and Medical Sciences, University of Western Australia, Perth, Western Australia, Australia (Drs Pang, Watts).
¹¹ Department of Cardiology, Calvary Cardiac Centre, Calvary Health Care, Tasmania, Australia (Dr Bishop).
¹² Health consumer, FH Australia, Sydney, New South Wales, Australia (Mr Elias).
¹³ Institute of Endocrinology and Diabetes, The Children's Hospital at Westmead, Sydney, New South Wales, Australia (Dr Srinivasan); Discipline of Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney, Sydney, New South Wales, Australia (Dr Srinivasan).
¹⁴ Department of Cardiovascular Medicine, Flinders Medical Centre, Adelaide, South Australia, Australia (Dr Waddell-Smith).
¹⁵ Health consumer, FH Australia, Perth, Western Australia, Australia (Ms Della-Vedova).
¹⁶ General Practice and Primary Care Research, School of Medicine, The University of Notre Dame, Sydney, New South Wales, Australia (Dr Hespe).
¹⁷ School of Public Health and Preventive Medicine, Monash University, Melbourne, Australia (Dr Tiller).
¹⁸ Australian Institute of Health Innovation, Faculty of Health and Human Sciences, Macquarie University, Sydney, New South Wales, Australia (Drs Sarkies, Braithwaite).
¹⁹ School of Health Sciences, Faculty of Medicine and Health, University of Sydney, Sydney, New South Wales, Australia (Drs Sarkies, Birkenhead).
²⁰ School of Medicine, Faculty of Health and Medical Sciences, University of Western Australia, Perth, Western Australia, Australia (Drs Pang, Watts); Lipid Disorders Clinic, Cardiometabolic Service, Departments of Cardiology and Internal Medicine, Royal Perth Hospital, Perth, Western Australia, Australia (Dr Watts).

PMID: 40221339
DOI: 10.1016/j.jacl.2025.03.004

Abstract

Background: Familial hypercholesterolemia (FH) is a common and treatable inherited condition of cholesterol metabolism that increases cardiovascular health risk. Less than 10% of people with FH have been detected and few receive recommended treatment.

Objective: We report on the development of a national implementation strategy for enhancing the detection of FH in Australia.

Methods: A modified intervention mapping study was conducted, through workshops to identify barriers and facilitators of FH detection, models for detection and their objectives. Practical implementation strategies were selected using a constructivist analysis and summaries of the strategies were disseminated for feedback. A case study showcase was used to monitor strategy implementation.

Results: Potential models for FH detection were identified, including (1) use of pathology lab reports and recall; (2) screening in general practice, pharmacy, and Aboriginal Community Controlled Health Organizations; (3) screening in cardiovascular inpatients, outpatients, and rehabilitation; (4) universal screening; and (5) centralized coordination of primary-tertiary shared care. Implementation strategies were selected for each model to support their operationalization into routine care. A list of general implementation strategies was also produced that could support multiple models for FH detection.

Conclusion: We identified multiple FH detection models and strategies that would support implementation across Australia. Centralized coordination of a primary-tertiary shared care model was described as a promising approach for integrating index case detection with family cascade testing. We provide a set of implementation recommendations for policy and practice to enhance the detection of FH in Australia.

Keywords: Atherosclerosis; Cardiovascular; Diagnosis; Evidence-based medicine; Genetics; Health policy; Implementation science; Lipids; Models of care; Research translation.

MeSH terms

Australia
Humans
Hyperlipoproteinemia Type II* / diagnosis
Mass Screening