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Office of Population Health Genomics  

Familial Hypercholesterolaemia (FH) Pilot Cascade Screening Program

Familial hypercholesterolaemia (FH) is an inherited disorder of cholesterol metabolism leading to premature coronary heart disease (CHD). The prevalence of FH is 1/500 in Western Australia with only 20% of cases diagnosed. The early diagnosis and treatment of FH can delay or prevent the onset of premature CHD.

The FH Pilot Cascade Screening Program has been established to implement family cascade screening of FH cases in WA.

Index cases of FH are identified through lipid, cardiology and selected general practices. Relatives of participants who consent to cascade-screening may also be referred into the program. All cases have an initial consultation with the RPH Lipid Disorders Clinic, with ongoing medical care provided by their GP or specialist physician.

FH Cascade Screening has been shown to be cost-effective in reducing preventable cardiovascular disease in the UK and Netherlands.

Project Steering Committee Includes:

Prof Gerald Watts Clin. Prof John Burnett
Dr Peter O’Leary Prof Trevor Redgrave
Prof Jon Emery Clin. Prof Simon Dimmitt
Dr Tim Bates A/Prof Frank van Bockxmeer
A/Prof David Forbes Clin. Prof Jack Goldblatt

The Office of Population Health Genomics in collaboration with the Department of Internal Medicine at Royal Perth Hospital and the UWA School of Medicine and Pharmacology and Primary Care, are supported by the Australian Better Health Initiative to run the FH Pilot Program.

The Familial Hypercholesterolaemia (FH) Model of Care (PDF 830KB) provides a framework for the early detection and treatment of FH in affected Western Australian families.

For more information about the project, please contact the Office of Population Genomics on (+61 8) 9323 6600 or email the Project Coordinator at samantha.poke@health.wa.gov.au.

Australian Better Health Initiative: A joint Australian, State and Territory government initiative.