Gaps in the Care of Familial Hypercholesterolaemia in Australia: First Report From the National Registry

Members of the FH Australasia Network Registry, Jing Pang, David R. Sullivan, David L. Hare, David M. Colquhoun, Timothy R. Bates, Jacqueline D.M. Ryan, Warrick Bishop, John R. Burnett, Damon A. Bell, Leon A. Simons, Sam Mirzaee, Karam M. Kostner, Paul J. Nestel, Andrew M. Wilson, Richard C. O'Brien, Edward D. Janus, Peter M. Clifton, Justin J. Ardill, Dick C. ChanFrank van Bockxmeer, Gerald F. Watts

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2 Citations (Scopus)


Background: Familial hypercholesterolaemia (FH) is under-diagnosed and under-treated worldwide, including Australia. National registries play a key role in identifying patients with FH, understanding gaps in care and advancing the science of FH to improve care for these patients. Methods: The FH Australasia Network has established a national web-based registry to raise awareness of the condition, facilitate service planning and inform best practice and care services in Australia. We conducted a cross-sectional analysis of 1,528 FH adults enrolled in the registry from 28 lipid clinics. Results: The mean age at enrolment was 53.4±15.1 years, 50.5% were male and 54.3% had undergone FH genetic testing, of which 61.8% had a pathogenic FH-causing gene variant. Only 14.0% of the cohort were family members identified through cascade testing. Coronary artery disease (CAD) was reported in 28.0% of patients (age of onset 49.0±10.5 years) and 64.9% had at least one modifiable cardiovascular risk factor. The mean untreated LDL-cholesterol was 7.4±2.5 mmol/L. 80.8% of patients were on lipid-lowering therapy with a mean treated LDL-cholesterol of 3.3±1.7 mmol/L. Among patients receiving lipid-lowering therapies, 25.6% achieved an LDL-cholesterol target of

Original languageEnglish
JournalHeart Lung and Circulation
Publication statusE-pub ahead of print - 29 Aug 2020

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