Please use this identifier to cite or link to this item: https://ahro.austin.org.au/austinjspui/handle/1/25895
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dc.contributor.authorWatts, Gerald F-
dc.contributor.authorSullivan, David R-
dc.contributor.authorHare, David L-
dc.contributor.authorKostner, Karam M-
dc.contributor.authorHorton, Ari E-
dc.contributor.authorBell, Damon A-
dc.contributor.authorBrett, Tom-
dc.contributor.authorTrent, Ronald J-
dc.contributor.authorPoplawski, Nicola K-
dc.contributor.authorMartin, Andrew C-
dc.contributor.authorSrinivasan, Shubha-
dc.contributor.authorJusto, Robert N-
dc.contributor.authorChow, Clara K-
dc.contributor.authorPang, Jing-
dc.date2020-12-09-
dc.date.accessioned2021-02-21T22:47:54Z-
dc.date.available2021-02-21T22:47:54Z-
dc.date.issued2021-03-
dc.identifier.citationHeart, Lung & Circulation 2021; 30(3): 324-349en
dc.identifier.urihttps://ahro.austin.org.au/austinjspui/handle/1/25895-
dc.description.abstractFamilial 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.en
dc.language.isoeng
dc.subjectAdultsen
dc.subjectAssessmenten
dc.subjectCascade testingen
dc.subjectChildrenen
dc.subjectDiagnosisen
dc.subjectFamilial hypercholesterolaemiaen
dc.subjectGenetic testingen
dc.subjectGuidanceen
dc.subjectManagementen
dc.subjectOrganisation of careen
dc.titleIntegrated Guidance for Enhancing the Care of Familial Hypercholesterolaemia in Australia.en
dc.typeJournal Articleen
dc.identifier.journaltitleHeart, Lung & Circulationen
dc.identifier.affiliationLipid Disorders Clinic, Cardiometabolic Service, Departments of Cardiology and Internal Medicine, Royal Perth Hospital, Perth, WA, Australiaen
dc.identifier.affiliationDivision of Paediatrics, Faculty of Health and Medical Sciences, University of Western Australia, Perth, WA, Australiaen
dc.identifier.affiliationDepartment of Paediatrics, Monash University, Melbourne, Vic, Australiaen
dc.identifier.affiliationSchool of Medicine, Faculty of Health and Medical Sciences, University of Western Australia, Perth, WA, Australiaen
dc.identifier.affiliationGeneral Practice and Primary Health Care Research, School of Medicine, University of Notre Dame Australia, Fremantle, WA, Australiaen
dc.identifier.affiliationDepartment of Cardiology, Mater Hospital, University of Queensland, Brisbane, Qld, Australiaen
dc.identifier.affiliationSonic Genetics, Sonic Pathology, Sydney, NSW, Australiaen
dc.identifier.affiliationMonash Heart and Monash Children's Hospital, Monash Health, Melbourne, Vic, Australiaen
dc.identifier.affiliationCentral Clinical School, Faculty of Medicine and Health, University of Sydney, NSW, Australiaen
dc.identifier.affiliationSydney Medical School, Faculty of Medicine and Health, University of Sydney, Sydney, NSW, Australiaen
dc.identifier.affiliationGeorge Institute for Global Health, Sydney, NSW, Australiaen
dc.identifier.affiliationSchool of Medicine, University of Queensland, Brisbane, Qld, Australiaen
dc.identifier.affiliationAdelaide Medical School, University of Adelaide, Adelaide, SA, Australiaen
dc.identifier.affiliationDiscipline of Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney, Sydney, NSW, Australiaen
dc.identifier.affiliationFaculty of Medicine, Dentistry and Health Sciences, University of Melbourne, Melbourne, Vic, Australiaen
dc.identifier.affiliationCardiologyen
dc.identifier.affiliationDepartment of Chemical Pathology, Royal Prince Alfred Hospital, Sydney, NSW, Australiaen
dc.identifier.affiliationMonash Cardiovascular Research Centre, Melbourne, Vic, Australiaen
dc.identifier.affiliationWestmead Applied Research Centre, The University of Sydney, Sydney, NSW, Australiaen
dc.identifier.affiliationDepartment of Cardiology, Westmead Hospital, Sydney, NSW, Australiaen
dc.identifier.affiliationDepartment of Paediatric Cardiology, Queensland Children's Hospital, Brisbane, Qld, Australiaen
dc.identifier.affiliationInstitute of Endocrinology and Diabetes, The Children's Hospital at Westmead, Sydney, NSW, Australiaen
dc.identifier.affiliationDepartment General Paediatrics, Perth Children's Hospital, Perth, WA, Australiaen
dc.identifier.affiliationAdult Genetics Unit, Royal Adelaide Hospital, Adelaide, SA, Australiaen
dc.identifier.affiliationDepartment of Medical Genomics, Royal Prince Alfred Hospital, Sydney, NSW, Australiaen
dc.identifier.affiliationSchool of Medicine, Faculty of Health and Medical Sciences, University of Western Australia, Perth, WA, Australiaen
dc.identifier.affiliationLipid Disorders Clinic, Cardiometabolic Service, Departments of Cardiology and Internal Medicine, Royal Perth Hospital, Perth, WA, Australiaen
dc.identifier.affiliationDepartment of Clinical Biochemistry, PathWest Laboratory Medicine WA, Royal Perth Hospital and Fiona Stanley Hospital Network, Perth, WA, Australiaen
dc.identifier.affiliationDepartment of Clinical Biochemistry, Clinipath Pathology, Perth, WA, Australiaen
dc.identifier.doi10.1016/j.hlc.2020.09.943en
dc.type.contentTexten
dc.identifier.pubmedid33309206
local.name.researcherHare, David L
item.openairecristypehttp://purl.org/coar/resource_type/c_18cf-
item.cerifentitytypePublications-
item.fulltextNo Fulltext-
item.grantfulltextnone-
item.languageiso639-1en-
item.openairetypeJournal Article-
crisitem.author.deptCardiology-
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