American Journal of Preventive Cardiology (Jun 2021)
Synopsis of an integrated guidance for enhancing the care of familial hypercholesterolaemia: an Australian perspective
- 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,
- Zanfina Ademi,
- Justin J Ardill,
- Wendy Barnett,
- Timothy R Bates,
- Lawrence J Beilin,
- Warrick Bishop,
- J Andrew Black,
- Alex Brown,
- John R Burnett,
- Christina A Bursill,
- Alison Colley,
- Peter M Clifton,
- Elif I Ekinci,
- Gemma A Figtree,
- Brett H Forge,
- Jacquie Garton-Smith,
- Dorothy F Graham,
- Ian Hamilton-Craig,
- Christian R Hamilton-Craig,
- Clare Heal,
- Charlotte M Hespe,
- Amanda J Hooper,
- Laurence G Howes,
- Jodie Ingles,
- Edward D Janus,
- Nadarajah Kangaharan,
- Anthony C Keech,
- Andrew B Kirke,
- Leonard Kritharides,
- Campbell V Kyle,
- Paul Lacaze,
- Stephen CH Li,
- Stjepana Maticevic,
- Brendan M McQuillan,
- Sam Mirzaee,
- Trevor A Mori,
- Allison C Morton,
- David M Colquhoun,
- Joanna C Moullin,
- Paul J Nestel,
- Kristen J Nowak,
- Richard C O'Brien,
- Nicholas Pachter,
- Michael M Page,
- Peter J Psaltis,
- Jan Radford,
- Nicola J Reid,
- Elizabeth N Robertson,
- Jacqueline DM Ryan,
- Mitchell N Sarkies,
- Carl J Schultz,
- Russell S Scott,
- Christopher Semsarian,
- Leon A Simons,
- Catherine Spinks,
- Andrew M Tonkin,
- Frank van Bockxmeer,
- Kathryn E Waddell-Smith,
- Natalie C Ward,
- Harvey D White,
- Andrew M Wilson,
- Ingrid Winship,
- Ann Marie Woodward,
- Stephen J Nicholls,
- Peter Brett,
- Luke Elias,
- Wynand Malan,
- John Irvin,
- Kirsten Lambert,
- Annette Pedrotti
Affiliations
- Gerald F. Watts
- School of Medicine, Faculty of Health and Medical Sciences, University of Western Australia, Perth, Western Australia, Australia; Lipid Disorders Clinic, Cardiometabolic Service, Departments of Cardiology and Internal Medicine, Royal Perth Hospital, Perth, Western Australia, Australia; Corresponding author at: School of Medicine, Faculty of Health and Medical Sciences, University of Western Australia, GPO Box X2213 Perth, WA 6847, Australia.
- David R. Sullivan
- Department of Chemical Pathology, Royal Prince Alfred Hospital, Camperdown, New South Wales, Australia; Sydney Medical School, University of Sydney, Sydney, New South Wales, Australia
- David L. Hare
- Faculty of Medicine, Dentistry and Health Sciences, University of Melbourne, Melbourne, Australia; Department of Cardiology, Austin Health, Melbourne, Australia
- Karam M. Kostner
- Department of Cardiology, Mater Hospital, University of Queensland, Brisbane, Australia
- Ari E. Horton
- Monash Heart and Monash Children's Hospital, Monash Health, Melbourne, Victoria, Australia; Monash Cardiovascular Research Centre, Melbourne, Victoria, Australia; Department of Paediatrics, Monash University, Melbourne, Victoria, Australia
- Damon A. Bell
- School of Medicine, Faculty of Health and Medical Sciences, University of Western Australia, Perth, Western Australia, Australia; Lipid Disorders Clinic, Cardiometabolic Service, Departments of Cardiology and Internal Medicine, Royal Perth Hospital, Perth, Western Australia, Australia; Department of Clinical Biochemistry, PathWest Laboratory Medicine WA, Royal Perth Hospital and Fiona Stanley Hospital Network, Perth, Western Australia, Australia; Department of Clinical Biochemistry, Clinipath Pathology, Perth, Western Australia, Australia; Sonic Genetics, Sonic Pathology, Australia
- Tom Brett
- General Practice and Primary Health Care Research, School of Medicine, University of Notre Dame Australia, Fremantle, Australia
- Ronald J. Trent
- Department of Medical Genomics, Royal Prince Alfred Hospital, Camperdown, New South Wales, Australia; Central Clinical School, Faculty of Medicine and Health, University of Sydney, New South Wales, Australia
- Nicola K. Poplawski
- Adult Genetics Unit, Royal Adelaide Hospital, Adelaide, South Australia, Australia; Adelaide Medical School, University of Adelaide, Adelaide, South Australia, Australia
- Andrew C. Martin
- Department General Paediatrics, Perth Children's Hospital, Perth, Western Australia, Australia; Division of Paediatrics, Faculty of Health and Medical Sciences, University of Western Australia, Perth, Western Australia, Australia
- Shubha Srinivasan
- Institute of Endocrinology and Diabetes, The Children's Hospital at Westmead, Sydney, Australia; Discipline of Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney, Sydney, Australia
- Robert N. Justo
- Department of Paediatric Cardiology, Queensland Children's Hospital, Brisbane, Queensland, Australia; School of Medicine, University of Queensland, Brisbane, Queensland, Australia
- Clara K. Chow
- Westmead Applied Research Centre, The University of Sydney, Sydney, New South Wales, Australia; Department of Cardiology, Westmead Hospital, Sydney, New South Wales, Australia; George Institute for Global Health, Sydney, New South Wales, Australia
- Jing Pang
- School of Medicine, Faculty of Health and Medical Sciences, University of Western Australia, Perth, Western Australia, Australia
- Zanfina Ademi
- School of Public Health and Preventive Medicine, Monash University, Melbourne, Australia
- Justin J Ardill
- SA Heart, Adelaide, South Australia, Australia
- Wendy Barnett
- Lipid Disorders Clinic, Cardiometabolic Services, Department of Cardiology, Royal Perth Hospital, Perth, Western Australia, Australia
- Timothy R Bates
- School of Medicine, Faculty of Health and Medical Sciences, University of Western Australia, Perth, Western Australia, Australia; St John of God Hospital Midland, Perth, Western Australia, Australia; Curtin Medical School, Faculty of Health Sciences, Curtin University, Perth, Western Australia, Australia
- Lawrence J Beilin
- School of Medicine, Faculty of Health and Medical Sciences, University of Western Australia, Perth, Western Australia, Australia
- Warrick Bishop
- Department of Cardiology, Calvary Cardiac Centre, Calvary Health Care, Tasmania, Australia
- J Andrew Black
- Menzies Institute for Medical Research, University of Tasmania, Hobart, Tasmania, Australia; Department of Cardiology, Royal Hobart Hospital, Hobart, Tasmania, Australia
- Alex Brown
- Aboriginal Health Equity, South Australian Health and Medical Research Institute, Adelaide, South Australia, Australia; Faculty of Health and Medical Sciences, University of Adelaide, South Australia, Australia
- John R Burnett
- School of Medicine, Faculty of Health and Medical Sciences, University of Western Australia, Perth, Western Australia, Australia; Lipid Disorders Clinic, Cardiometabolic Services, Department of Cardiology, Royal Perth Hospital, Perth, Western Australia, Australia; Department of Clinical Biochemistry, PathWest Laboratory Medicine WA, Royal Perth Hospital and Fiona Stanley Hospital Network, Perth, Western Australia, Australia
- Christina A Bursill
- Vascular Research Centre, South Australian Health and Medical Research Centre, Adelaide, South Australia, Australia; Faculty of Health and Medical Research, University of Adelaide, Adelaide, South Australia, Australia
- Alison Colley
- Clinical Genetics Services, Liverpool Hospital, Liverpool, New South Wales, Australia
- Peter M Clifton
- Department of Endocrinology, Royal Adelaide Hospital, Adelaide, South Australia, Australia
- Elif I Ekinci
- Department of Endocrinology, Royal Adelaide Hospital, Adelaide, South Australia, Australia
- Gemma A Figtree
- Kolling Institute, Royal North Shore Hospital, Sydney, New South Wales, Australia; Faculty of Medicine and Health, University of Sydney, Sydney, New South Wales, Australia; The George Institute for Global Health, Sydney, New South Wales, Australia
- Brett H Forge
- West Gippsland Hospital, Warragul, Victoria, Australia
- Jacquie Garton-Smith
- Health Networks, Department of Heath Western Australia, Perth, Western Australia, Australia; Clinical Services, Royal Perth Hospital, Perth, Western Australia, Australia; WA Primary Health Alliance, Perth, Western Australia, Australia
- Dorothy F Graham
- School of Medicine, Faculty of Health and Medical Sciences, University of Western Australia, Perth, Western Australia, Australia; Department of Maternal and Fetal Medicine, King Edward Memorial Hospital, Subiaco, Western Australia, Australia
- Ian Hamilton-Craig
- School of Medicine, Flinders University, Adelaide, South Australia, Australia
- Christian R Hamilton-Craig
- Cardiology Program, The Prince Charles Hospital, Brisbane, Queensland, Australia; Faculty of Medicine, University of Queensland, Brisbane, Queensland, Australia; School of Medicine, Griffith University, Sunshine Coast, Queensland, Australia
- Clare Heal
- School of Medicine and Dentistry, James Cook University, Mackay, Queensland, Australia
- Charlotte M Hespe
- General Practice and Primary Care Research, School of Medicine, The University of Notre Dame, Sydney, New South Wales, Australia
- Amanda J Hooper
- School of Medicine, Faculty of Health and Medical Sciences, University of Western Australia, Perth, Western Australia, Australia; Department of Clinical Biochemistry, PathWest Laboratory Medicine WA, Royal Perth Hospital and Fiona Stanley Hospital Network, Perth, Western Australia, Australia
- Laurence G Howes
- Cardiac Services, Gold Coast University Hospital, Southport, Queensland, Australia
- Jodie Ingles
- Agnes Ginges Centre for Molecular Cardiology at Centenary Institute, The University of Sydney, Sydney, New South Wales, Australia; Faculty of Medicine and Health, The University of Sydney, Sydney, New South Wales, Australia; Department of Cardiology, Royal Prince Alfred Hospital, Sydney, New South Wales, Australia
- Edward D Janus
- Western Health Chronic Disease Alliance, Western Health, Melbourne, Victoria, Australia; Department of Medicine, Western Health, Melbourne, Victoria, Australia
- Nadarajah Kangaharan
- Department of Cardiology, Royal Darwin Hospital, Darwin, Northern Territory, Australia; Menzies School of Health Research, Darwin, Northern Territory, Australia; Northern Territory Medical School, Flinders University, Adelaide, South Australia, Australia
- Anthony C Keech
- NHMRC Clinical Trials Centre, University of Sydney, Sydney, New South Wales, Australia; Department of Cardiology, Royal Prince Alfred Hospital, Camperdown, New South Wales, Australia
- Andrew B Kirke
- Rural Clinical School of Western Australia, University of Western Australia, Bunbury, Western Australia, Australia
- Leonard Kritharides
- Department of Cardiology, Concord Hospital, Sydney, Australia; The ANZAC Research Institute, University of Sydney, Sydney, Australia
- Campbell V Kyle
- Department of Biochemistry, LabPlus, Auckland City Hospital, Auckland, New Zealand
- Paul Lacaze
- Public Health Genomics, School of Public Health and Preventive Medicine, Monash University, Melbourne, Victoria, Australia
- Stephen CH Li
- Core Pathology and Clinical Chemistry, Pathology West, NSW Health Pathology, Sydney, New South Wales, Australia; Lipid Clinic, Westmead Hospital, Westmead, New South Wales, Australia
- Stjepana Maticevic
- Department of General Medicine, Sir Charles Gairdner Hospital, Perth, Western Australia, Australia
- Brendan M McQuillan
- School of Medicine, Faculty of Health and Medical Sciences, University of Western Australia, Perth, Western Australia, Australia; Department of Cardiovascular Medicine, Sir Charles Gairdner Hospital, Perth, Western Australia, Australia
- Sam Mirzaee
- Monash Cardiovascular Research Centre, MonashHeart, Melbourne, Victoria, Australia
- Trevor A Mori
- School of Medicine, Faculty of Health and Medical Sciences, University of Western Australia, Perth, Western Australia, Australia
- Allison C Morton
- Genesiscare, South West Health Campus, Bunbury, Western Australia, Australia
- David M Colquhoun
- School of Medicine, University of Queensland, Brisbane, Queensland, Australia; Wesley Medical Centre, Wesley Hospital and Greenslopes Private Hospital, Brisbane, Queensland, Australia
- Joanna C Moullin
- Faculty of Health Sciences, Curtin University, Perth, Western Australia, Australia
- Paul J Nestel
- Baker Heart & Diabetes Institute, Melbourne, Victoria, Australia; Department of Cardiology, The Alfred Hospital, Melbourne, Victoria, Australia
- Kristen J Nowak
- Office of Population Health Genomics, Public and Aboriginal Health Division, Department of Health, Government of Western Australia, Perth, Western Australia, Australia
- Richard C O'Brien
- Austin Clinical School, University of Melbourne, Melbourne, Victoria, Australia; Department of Endocrinology, Austin Health, Melbourne, Victoria, Australia
- Nicholas Pachter
- Genetic Services of Western Australia, King Edward Memorial Hospital, Perth, Western Australia, Australia; School of Medicine, Faculty of Health and Medical Sciences, University of Western Australia, Perth, Western Australia, Australia; School of Medicine, Faculty of Health Sciences, Curtin University, Perth, Western Australia, Australia
- Michael M Page
- School of Medicine, Faculty of Medicine and Health Sciences, University of Western Australia, Perth, Western Australia, Australia; Department of Clinical Biochemistry, Western Diagnostic Pathology, Perth, Western Australia, Australia
- Peter J Psaltis
- Vascular Research Centre, South Australian Health and Medical Research Institute, Adelaide, South Australia, Australia; Adelaide Medical School, University of Adelaide, Adelaide, South Australia, Australia
- Jan Radford
- Launceston Clinical School, Tasmanian School of Medicine, University of Tasmania, Tasmania, Australia
- Nicola J Reid
- Lipid Disorders Service, Cardiology Department, Christchurch Hospital, Christchurch, New Zealand
- Elizabeth N Robertson
- Department of Cardiology, Royal Prince Alfred Hospital, Camperdown, New South Wales, Australia; Faculty of Medicine and Health, Charles Perkins Centre, University of Sydney, Sydney, New South Wales, Australia
- Jacqueline DM Ryan
- Perth Lipid Clinic, Perth, Western Australia, Australia
- Mitchell N Sarkies
- Centre for Healthcare Resilience and Implementation Science, Australian Institute of Health Innovation, Faculty of Medicine, Health and Human Sciences, Macquarie University, Sydney, New South Wales, Australia; Health Economics and Data Analytics Discipline, School of Public Health, Faculty of Health Sciences, Curtin University, Perth, Western Australia, Australia
- Carl J Schultz
- School of Medicine, Faculty of Health and Medical Sciences, University of Western Australia, Perth, Western Australia, Australia; Department of Cardiology, Royal Perth Hospital, Perth, Western Australia, Australia
- Russell S Scott
- Internal Medicine, Christchurch Hospital, Christchurch, Canterbury, New Zealand
- Christopher Semsarian
- Agnes Ginges Centre for Molecular Cardiology at Centenary Institute, The University of Sydney, Sydney, New South Wales, Australia; Faculty of Medicine and Health, The University of Sydney, Sydney, New South Wales, Australia; Department of Cardiology, Royal Prince Alfred Hospital, Sydney, New South Wales, Australia
- Leon A Simons
- University of New South Wales and St Vincent's Hospital, Sydney, New South Wales, Australia
- Catherine Spinks
- Department of Chemical Pathology, Royal Prince Alfred Hospital, Camperdown, New South Wales, Australia
- Andrew M Tonkin
- Department of Epidemiology and Preventive Medicine, Monash University, Melbourne, Victoria, Australia
- Frank van Bockxmeer
- School of Medicine, Faculty of Health and Medical Sciences, University of Western Australia, Perth, Western Australia, Australia
- Kathryn E Waddell-Smith
- Department of Cardiovascular Medicine, Flinders Medical Centre, Adelaide, South Australia, Australia
- Natalie C Ward
- School of Medicine, Faculty of Health and Medical Sciences, University of Western Australia, Perth, Western Australia, Australia; Curtin Health Innovation Research Institute, Curtin University, Perth, Western Australia, Australia
- Harvey D White
- Green Lane Cardiovascular Services, Auckland City Hospital and Auckland University, Auckland, New Zealand
- Andrew M Wilson
- Department of Cardiology, St. Vincent's Hospital, Melbourne, Victoria, Australia; Faculty of Medicine, Dentistry and Health Sciences, University of Melbourne, Melbourne, Victoria, Australia
- Ingrid Winship
- Department of Medicine (Royal Melbourne Hospital), University of Melbourne Genomic Medicine, Melbourne Health, Melbourne, Victoria, Australia
- Ann Marie Woodward
- Lipid Disorders Clinic, Cardiometabolic Services, Department of Cardiology, Royal Perth Hospital, Perth, Western Australia, Australia
- Stephen J Nicholls
- Department of Medicine, Monash University, Melbourne, Victoria, Australia
- Peter Brett
- FH Australasia Support Group, Melbourne, Victoria, Australia
- Luke Elias
- FH Australasia Support Group, Sydney, New South Wales, Australia
- Wynand Malan
- FH Australasia Support Group, Perth, Western Australia, Australia; School of Health Sciences, Curtin University, Perth, Western Australia, Australia
- John Irvin
- FH Australasia Support Group, Perth, Western Australia, Australia
- Kirsten Lambert
- FH Australasia Support Group, Perth, Western Australia, Australia; School of Education, Edith Cowan University, Joondalup, Western Australia, Australia
- Annette Pedrotti
- FH Australasia Support Group, Perth, Western Australia, Australia
- Journal volume & issue
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Vol. 6
p. 100151
Abstract
Summary: Introduction: Familial hypercholesterolaemia (FH) is a common, heritable and preventable cause of premature coronary artery disease, with significant potential for positive impact on public health and healthcare savings. New clinical practice recommendations are presented in an abridged guidance to assist practitioners in enhancing the care of all patients with FH. Main recommendations: Core recommendations are made on the detection, diagnosis, assessment and management of adults, children and adolescents with FH. There is a key role for general practitioners (GPs) working in collaboration with specialists with expertise in lipidology. Advice is given on genetic and cholesterol testing and risk notification of biological relatives undergoing cascade testing for FH; all healthcare professionals should develop skills in genomic medicine. Management is under-pinned by the precepts of risk stratification, adherence to healthy lifestyles, treatment of non-cholesterol risk factors, and appropriate use of low-density lipoprotein (LDL)-cholesterol lowering therapies, including statins, ezetimibe and proprotein convertase subtilisin/kexin type 9 (PCSK9) inhibitors. Recommendations on service design are provided in the full guidance. Potential impact on care of FH: These recommendations need to be utilised using judicious clinical judgement and shared decision making with patients and families. Models of care need to be adapted to both local and regional needs and resources. In Australia new government funded schemes for genetic testing and use of PCSK9 inhibitors, as well as the National Health Genomics Policy Framework, will enable adoption of these recommendations. A broad implementation science strategy is, however, required to ensure that the guidance translates into benefit for all families with FH.
