Jing Pang1, David R Sullivan2, David L Hare3, David M Colquhoun4, Timothy R Bates5, Jacqueline D M Ryan6, Warrick Bishop7, John R Burnett8, Damon A Bell8, Leon A Simons9, Sam Mirzaee10, Karam M Kostner11, Paul J Nestel12, Andrew M Wilson13, Richard C O'Brien14, Edward D Janus15, Peter M Clifton16, Justin J Ardill17, Dick C Chan1, Frank van Bockxmeer1, Gerald F Watts18. 1. School of Medicine, Faculty of Health and Medical Sciences, University of Western Australia, Perth, WA, Australia. 2. Department of Chemical Pathology, Royal Prince Alfred Hospital, Sydney, NSW, Australia; Sydney Medical School, University of Sydney, Sydney, NSW, Australia. 3. Faculty of Medicine, Dentistry and Health Sciences, University of Melbourne, Melbourne, Vic, Australia; Department of Cardiology, Austin Health, Melbourne, Vic, Australia. 4. School of Medicine, University of Queensland, Brisbane, Qld, Australia; Wesley Medical Centre, Wesley Hospital and Greenslopes Private Hospital, Brisbane, Qld, Australia. 5. School of Medicine, Faculty of Health and Medical Sciences, University of Western Australia, Perth, WA, Australia; Department of Medicine, St John of God Hospital Midland, Perth, WA, Australia; Curtin Medical School, Faculty of Health Sciences, Curtin University, Perth, WA, Australia. 6. Perth Lipid Clinic, Perth, WA, Australia. 7. Department of Cardiology, Calvary Cardiac Centre, Calvary Health Care, Hobart, Tas, Australia. 8. School of Medicine, Faculty of Health and Medical Sciences, University of Western Australia, Perth, WA, Australia; Lipid Disorders Clinic, Cardiometabolic Services, Department of Cardiology, Royal Perth Hospital, Perth, WA, Australia; Department of Clinical Biochemistry, PathWest Laboratory Medicine WA, Royal Perth Hospital and Fiona Stanley Hospital Network, Perth, WA, Australia. 9. University of New South Wales and St Vincent's Hospital, Sydney, NSW, Australia. 10. Monash Cardiovascular Research Centre, MonashHeart, Melbourne, Vic, Australia. 11. Department of Cardiology, Mater Hospital, University of Queensland, Brisbane, Qld, Australia. 12. Baker Heart & Diabetes Institute, Melbourne, Vic, Australia; Department of Cardiology, The Alfred Hospital, Melbourne, Vic, Australia. 13. Department of Cardiology, St. Vincent's Hospital, Melbourne, Vic, Australia; Faculty of Medicine, Dentistry and Health Sciences, University of Melbourne, Melbourne, Vic, Australia. 14. Austin Clinical School, University of Melbourne, Melbourne, Vic, Australia; Department of Endocrinology, Austin Health, Melbourne, Vic, Australia. 15. Western Health Chronic Disease Alliance, Western Health, Melbourne, Vic, Australia; Department of Medicine, Western Health Melbourne Medical School, University of Melbourne, Melbourne, Vic, Australia. 16. Department of Endocrinology, Royal Adelaide Hospital, Adelaide, SA, Australia. 17. SA Heart, Adelaide, SA, Australia. 18. School of Medicine, Faculty of Health and Medical Sciences, University of Western Australia, Perth, WA, Australia; Department of Cardiology, Calvary Cardiac Centre, Calvary Health Care, Hobart, Tas, Australia. Electronic address: gerald.watts@uwa.edu.au.
Abstract
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 <2.5 mmol/L without CAD or <1.8 mmol/L with CAD. CONCLUSION: Patients in the national FH registry are detected later in life, have a high burden of CAD and risk factors, and do not achieve guideline-recommended LDL-cholesterol targets. Genetic and cascade testing are under-utilised. These deficiencies in care need to be addressed as a public health priority.
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 <2.5 mmol/L without CAD or <1.8 mmol/L with CAD. CONCLUSION:Patients in the national FH registry are detected later in life, have a high burden of CAD and risk factors, and do not achieve guideline-recommended LDL-cholesterol targets. Genetic and cascade testing are under-utilised. These deficiencies in care need to be addressed as a public health priority.
Authors: Tom Brett; Dick C Chan; Jan Radford; Clare Heal; Gerard Gill; Charlotte Hespe; Cristian Vargas-Garcia; Carmen Condon; Barbara Sheil; Ian W Li; David R Sullivan; Alistair W Vickery; Jing Pang; Diane E Arnold-Reed; Gerald F Watts Journal: Heart Date: 2021-05-20 Impact factor: 5.994
Authors: Gerald F Watts; David R Sullivan; David L Hare; Karam M Kostner; Ari E Horton; Damon A Bell; Tom Brett; Ronald J Trent; Nicola K Poplawski; Andrew C Martin; Shubha Srinivasan; Robert N Justo; Clara K Chow; Jing Pang Journal: Am J Prev Cardiol Date: 2021-02-04