Essentials of a new clinical practice guidance on familial hypercholesterolaemia for physicians

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; and members of the FH Australasia Network Consensus Working Group

doi:10.1111/imj.15327

Essentials of a new clinical practice guidance on familial hypercholesterolaemia for physicians

Intern Med J. 2021 May;51(5):769-779. doi: 10.1111/imj.15327.

Authors

Gerald F Watts^{1

2}, David R Sullivan^{3

4}, David L Hare^{5

6}, Karam M Kostner⁷, Ari E Horton^{8

9

10}, Damon A Bell^{1

2

11

12

13}, Tom Brett¹⁴, Ronald J Trent^{15

16}, Nicola K Poplawski^{17

18}, Andrew C Martin^{19

20}, Shubha Srinivasan^{21

22}, Robert N Justo^{23

24}, Clara K Chow^{25

26

27}, Jing Pang¹; and members of the FH Australasia Network Consensus Working Group

Collaborators

and members of the FH Australasia Network Consensus Working Group:
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 D M Ryan, Mitchell N Sarkies, Carl J Schultz, 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, Luke Elias, Wynand Malan, John Irvin, Kirsten Lambert, Annette Pedrotti

Affiliations

¹ School of Medicine, University of Western Australia, Perth, Western Australia, Australia.
² Lipid Disorders Clinic, Cardiometabolic Service, Departments of Cardiology and Internal Medicine, Royal Perth Hospital, Perth, Western Australia, Australia.
³ Department of Chemical Pathology, Royal Prince Alfred Hospital, Sydney, New South Wales, Australia.
⁴ Sydney Medical School, University of Sydney, Sydney, New South Wales, Australia.
⁵ Faculty of Medicine, Dentistry and Health Sciences, University of Melbourne, Melbourne, Victoria, Australia.
⁶ Department of Cardiology, Austin Health, Melbourne, Victoria, Australia.
⁷ Department of Cardiology, Mater Hospital, University of Queensland, Brisbane, Queensland, Australia.
⁸ Monash Heart and Monash Children's Hospital, Monash Health, Melbourne, Victoria, Australia.
⁹ Monash Cardiovascular Research Centre, Melbourne, Victoria, Australia.
¹⁰ Department of Paediatrics, Monash University, Melbourne, Victoria, Australia.
¹¹ Department of Clinical Biochemistry, PathWest Laboratory Medicine WA, Royal Perth Hospital and Fiona Stanley Hospital Network, Perth, Western Australia, Australia.
¹² Department of Clinical Biochemistry, Clinipath Pathology, Perth, Western Australia, Australia.
¹³ Sonic Genetics, Sonic Pathology, Sydney, New South Wales, Australia.
¹⁴ General Practice and Primary Health Care Research, School of Medicine, University of Notre Dame Australia, Perth, Western Australia, Australia.
¹⁵ Department of Medical Genomics, Royal Prince Alfred Hospital, Sydney, New South Wales, Australia.
¹⁶ Central Clinical School, Faculty of Medicine and Health, University of Sydney, Sydney, New South Wales, Australia.
¹⁷ Adult Genetics Unit, Royal Adelaide Hospital, Adelaide, South Australia, Australia.
¹⁸ Adelaide Medical School, University of Adelaide, Adelaide, South Australia, Australia.
¹⁹ Department General Paediatrics, Perth Children's Hospital, Perth, Western Australia, Australia.
²⁰ Division of Paediatrics, University of Western Australia, Perth, Western Australia, Australia.
²¹ Institute of Endocrinology and Diabetes, The Children's Hospital at Westmead, Sydney, New South Wales, Australia.
²² Discipline of Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney, Sydney, New South Wales, Australia.
²³ Department of Paediatric Cardiology, Queensland Children's Hospital, Brisbane, Queensland, Australia.
²⁴ School of Medicine, University of Queensland, Brisbane, Queensland, Australia.
²⁵ Westmead Applied Research Centre, The University of Sydney, Sydney, New South Wales, Australia.
²⁶ Department of Cardiology, Westmead Hospital, Sydney, New South Wales, Australia.
²⁷ George Institute for Global Health, Sydney, New South Wales, Australia.

PMID: 34047032
DOI: 10.1111/imj.15327

Abstract

Familial hypercholesterolaemia (FH) is a common, heritable and preventable cause of premature coronary artery disease. New clinical practice recommendations are presented to assist practitioners in enhancing the care of all patients with FH. Core recommendations are made on the detection, diagnosis, assessment and management of adults, children and adolescents with FH. 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. The recommendations need to be utilised using judicious clinical judgement and shared decision-making with patients and families. 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 the recommendations. However, a comprehensive implementation science and practice strategy is required to ensure that the guidance translates into benefit for all families with FH.

Keywords: adults; care; familial hypercholesterolaemia; guidance; management; prevention.

MeSH terms

Adolescent
Adult
Anticholesteremic Agents* / therapeutic use
Child
Ezetimibe
Humans
Hyperlipoproteinemia Type II* / diagnosis
Hyperlipoproteinemia Type II* / drug therapy
Hyperlipoproteinemia Type II* / epidemiology
Physicians*
Proprotein Convertase 9

Substances

Anticholesteremic Agents
PCSK9 protein, human
Proprotein Convertase 9
Ezetimibe