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Published on: September 15, 2018
Implications of new clinical practice guidance on familial hypercholesterolaemia for Australian general practitioners
Tom Brett1, Jan Radford2, Clare Heal3
1MA, MD, FRACGP, MRCGP, Professor and Director, General Practice and Primary Health Care Research, School of Medicine, University of Notre Dame, Fremantle, WA; General Practitioner, Mosman Park Medical Centre, Mosman Park, WA.
Insights
Familial hypercholesterolaemia (FH), a genetic lipid disorder, is often missed. This review guides Australian GPs on FH identification and management, utilizing new genetic testing and PCSK9 inhibitor support.
Area of Science:
- Cardiology
- Genetics
- Primary Care Medicine
Background:
- Familial hypercholesterolaemia (FH) is a monogenic lipid disorder.
- FH diagnosis is often overlooked in routine clinical practice.
- This review focuses on FH identification and management challenges for Australian general practitioners (GPs).
Purpose of the Study:
- To review key areas for FH identification and management relevant to Australian GPs.
- To highlight recent consensus advice and new support mechanisms for FH care.
- To emphasize the importance of enhanced GP awareness and skills in diagnosing and managing FH.
Main Methods:
- Review of recent Australian consensus advice on FH care.
- Examination of new Medicare Benefits Schedule items for genetic testing.
- Analysis of Pharmaceutical Benefits Scheme listing for PCSK9 inhibitors.
Main Results:
- New support items facilitate genetic testing and PCSK9 inhibitor use for FH patients.
- A shared-care model with specialists is recommended for optimal FH management.
- Implementation of FH guidance in primary care presents ongoing challenges.
Conclusions:
- Australian GPs are presented with opportunities to improve FH diagnosis and management.
- Enhanced awareness, skills, and utilization of new support systems are crucial.
- A collaborative, multidisciplinary approach is essential for effective FH care and improved patient outcomes.
Background:
Familial hypercholesterolaemia (FH) is a monogenic lipid disorder that may be overlooked in the diagnostic process.
Objective:
The aim of this article is to review the key areas for identification and management of FH that affect Australian general practitioners (GPs).
Discussion:
Recent consensus advice on the care of patients with FH in Australia provides an opportunity for GPs to increase their awareness and skills in diagnosing and managing FH. New Medicare Benefits Schedule items for genetic testing and Pharmaceutical Benefits Scheme listing for the use of proprotein convertase subtilisin/kexin 9 (PCSK9) inhibitors offer GPs additional supports to improve the care of patients with FH. A shared-care approach between GPs and non-GP specialists with expertise in multiple disciplines offers the best option to facilitate genetic testing and management of index cases and affected family relatives. Implementation of this guidance in the primary care setting remains an ongoing challenge and needs to be embraced as a high priority.
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