Sarkies, Mitchell

Sullivan, David

Black, Andrew

Aylward, Philip

Kostner, Karam

Nicholls, Stephen J

Horton, Ar

Abhayaratna, Walter P

Kangaharan, Nadarajah

Pang, Jing

Bishop, Warrick

Elias, Luke

Srinivasan, Shubha

Waddell-Smith, Kathryn E

Della-Vedova, Jenny

Hespe, Charlotte

Tiller, Jane

Braithwaite, Jeffrey

Birkenhead, Karen

Watts, Gerald F

2025-03-20

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

School of Health Sciences, Faculty of Medicine and Health, University of Sydney, Sydney, New South Wales, Australia (Drs Sarkies and 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 and Braithwaite). Electronic address: mitchell.sarkies@sydney.edu.au.

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).

Menzies Institute for Medical Research, University of Tasmania, Hobart, Tasmania, Australia (Dr Black); Department of Cardiology, Royal Hobart Hospital, Hobart, Tasmania, Australia (Dr Black).

South Australian Health and Medical Research Institute, Flinders University and Medical Centre, Adelaide, South Australia, Australia (Dr Aylward).

Department of Cardiology, Mater Hospital, University of Queensland, Brisbane, Queensland, Australia (Dr Kostner).

Victorian Heart Institute, Monash University, Melbourne, Victoria, Australia (Drs Nicholls and Horton); Victorian Heart Hospital, Melbourne, Victoria, Australia (Drs Nicholls and Horton).

Victorian Heart Institute, Monash University, Melbourne, Victoria, Australia (Drs Nicholls and Horton); Victorian Heart Hospital, Melbourne, Victoria, Australia (Drs Nicholls and 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).

Cardiovascular Medicine, College of Medicine, Biology and Environment, Australian National University, Canberra, Australia (Dr Abhayaratna).

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).

School of Medicine, Faculty of Health and Medical Sciences, University of Western Australia, Perth, Western Australia, Australia (Drs Pang and Watts).

Department of Cardiology, Calvary Cardiac Centre, Calvary Health Care, Tasmania, Australia (Dr Bishop).

Health consumer, FH Australia, Sydney, New South Wales, Australia (Mr Elias).

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).

Department of Cardiovascular Medicine, Flinders Medical Centre, Adelaide, South Australia, Australia (Dr Waddell-Smith).

Health consumer, FH Australia, Perth, Western Australia, Australia (Ms Della-Vedova).

General Practice and Primary Care Research, School of Medicine, The University of Notre Dame, Sydney, New South Wales, Australia (Dr Hespe).

School of Public Health and Preventive Medicine, Monash University, Melbourne, Australia (Dr Tiller).

Australian Institute of Health Innovation, Faculty of Health and Human Sciences, Macquarie University, Sydney, New South Wales, Australia (Drs Sarkies and Braithwaite).

School of Health Sciences, Faculty of Medicine and Health, University of Sydney, Sydney, New South Wales, Australia (Drs Sarkies and Birkenhead).

School of Medicine, Faculty of Health and Medical Sciences, University of Western Australia, Perth, Western Australia, Australia (Drs Pang and Watts); Lipid Disorders Clinic, Cardiometabolic Service, Departments of Cardiology and Internal Medicine, Royal Perth Hospital, Perth, Western Australia, Australia (Dr Watts).

J Clin Lipidol . 2025 Mar 20:S1933-2874(25)00057-1. doi: 10.1016/j.jacl.2025.03.004. Online ahead of print.

1933-2874

https://pubmed.ncbi.nlm.nih.gov/40221339/?otool=iaurydwlib

https://hdl.handle.net/10137/14242

Atherosclerosis

Cardiovascular

Diagnosis

Evidence-based medicine

Genetics

Health policy

Implementation science

Lipids

Models of care

Research translation

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

Journal Article

Publication