Please use this identifier to cite or link to this item: https://ahro.austin.org.au/austinjspui/handle/1/25895
Title: Integrated Guidance for Enhancing the Care of Familial Hypercholesterolaemia in Australia.
Austin Authors: Watts, Gerald F;Sullivan, David R;Hare, David L ;Kostner, Karam M;Horton, Ari E;Bell, Damon A;Brett, Tom;Trent, Ronald J;Poplawski, Nicola K;Martin, Andrew C;Srinivasan, Shubha;Justo, Robert N;Chow, Clara K;Pang, Jing
Affiliation: Lipid Disorders Clinic, Cardiometabolic Service, Departments of Cardiology and Internal Medicine, Royal Perth Hospital, Perth, WA, Australia
Sonic Genetics, Sonic Pathology, Sydney, NSW, Australia
School of Medicine, Faculty of Health and Medical Sciences, University of Western Australia, Perth, WA, Australia
General Practice and Primary Health Care Research, School of Medicine, University of Notre Dame Australia, Fremantle, WA, Australia
Department of Cardiology, Mater Hospital, University of Queensland, Brisbane, Qld, Australia
Central Clinical School, Faculty of Medicine and Health, University of Sydney, NSW, Australia
Adelaide Medical School, University of Adelaide, Adelaide, SA, Australia
Division of Paediatrics, Faculty of Health and Medical Sciences, University of Western Australia, Perth, WA, Australia
Monash Heart and Monash Children's Hospital, Monash Health, Melbourne, Vic, Australia
Discipline of Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney, Sydney, NSW, Australia
School of Medicine, University of Queensland, Brisbane, Qld, Australia
George Institute for Global Health, Sydney, NSW, Australia
Department of Paediatrics, Monash University, Melbourne, Vic, Australia
Sydney Medical School, Faculty of Medicine and Health, University of Sydney, Sydney, NSW, Australia
Faculty of Medicine, Dentistry and Health Sciences, University of Melbourne, Melbourne, Vic, Australia
Cardiology
Department of Chemical Pathology, Royal Prince Alfred Hospital, Sydney, NSW, Australia
Monash Cardiovascular Research Centre, Melbourne, Vic, Australia
Westmead Applied Research Centre, The University of Sydney, Sydney, NSW, Australia
Department of Cardiology, Westmead Hospital, Sydney, NSW, Australia
Department of Paediatric Cardiology, Queensland Children's Hospital, Brisbane, Qld, Australia
Institute of Endocrinology and Diabetes, The Children's Hospital at Westmead, Sydney, NSW, Australia
Department General Paediatrics, Perth Children's Hospital, Perth, WA, Australia
Adult Genetics Unit, Royal Adelaide Hospital, Adelaide, SA, Australia
Department of Medical Genomics, Royal Prince Alfred Hospital, Sydney, NSW, Australia
School of Medicine, Faculty of Health and Medical Sciences, University of Western Australia, Perth, WA, Australia
Lipid Disorders Clinic, Cardiometabolic Service, Departments of Cardiology and Internal Medicine, 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
Department of Clinical Biochemistry, Clinipath Pathology, Perth, WA, Australia
Issue Date: Mar-2021
metadata.dc.date: 2020-12-09
Publication information: Heart, Lung & Circulation 2021; 30(3): 324-349
Abstract: Familial hypercholesterolaemia (FH) is a dominant and highly penetrant monogenic disorder present from birth that markedly elevates plasma low-density lipoprotein (LDL)-cholesterol concentration and, if untreated, leads to premature atherosclerosis and coronary artery disease (CAD). There are approximately 100,000 people with FH in Australia. However, an overwhelming majority of those affected remain undetected and inadequately treated, consistent with FH being a leading challenge for public health genomics. To further address the unmet need, we provide an updated guidance, presented as a series of systematically collated recommendations, on the care of patients and families with FH. These recommendations have been informed by an exponential growth in published works and new evidence over the last 5 years and are compatible with a contemporary global call to action on FH. Recommendations are given on the detection, diagnosis, assessment and management of FH in adults and children. Recommendations are also made on genetic testing and risk notification of biological relatives who should undergo cascade testing for FH. Guidance on management is based on the concepts of risk re-stratification, adherence to heart healthy lifestyles, treatment of non-cholesterol risk factors, and safe and appropriate use of LDL-cholesterol lowering therapies, including statins, ezetimibe, proprotein convertase subtilisin/kexin type 9 inhibitors and lipoprotein apheresis. Broad recommendations are also provided for the organisation and development of health care services. Recommendations on best practice need to be underpinned by good clinical judgment and shared decision making with patients and families. Models of care for FH need to be adapted to local and regional health care needs and available resources. A comprehensive and realistic implementation strategy, informed by further research, including assessments of cost-benefit, will be required to ensure that this new guidance benefits all Australian families with or at risk of FH.
URI: https://ahro.austin.org.au/austinjspui/handle/1/25895
DOI: 10.1016/j.hlc.2020.09.943
Journal: Heart, Lung & Circulation
PubMed URL: 33309206
Type: Journal Article
Subjects: Adults
Assessment
Cascade testing
Children
Diagnosis
Familial hypercholesterolaemia
Genetic testing
Guidance
Management
Organisation of care
Appears in Collections:Journal articles

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