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Title: Familial Hypercholesterolaemia in 2020: A�?Leading Tier 1 Genomic Application.
Austin Authors: Pang, Jing;Sullivan, David R;Brett, Tom;Kostner, Karam M;Hare, David L ;Watts, Gerald F
Affiliation: Lipid Disorders Clinic, Cardiometabolic Services, Department of Cardiology, Royal Perth Hospital, Perth, WA, Australia
Faculty of Medicine, Dentistry and Health Sciences, University of Melbourne, Melbourne, Vic, Australia
School of Medicine, Faculty of Health and Medical Sciences, University of Western Australia, Perth, WA, Australia
Department of Cardiology, Mater Hospital, University of Queensland, Brisbane, Qld, Australia
General Practice and Primary Health Care Research, School of Medicine, The University of Notre Dame Australia, Fremantle, WA, Australia
Department of Chemical Pathology, Royal Prince Alfred Hospital, NSW Health Pathology, Camperdown, Australia
Sydney Medical School, University of Sydney, Sydney, NSW, Australia
Issue Date: 24-Dec-2019
Date: 2019-12-24
Publication information: Heart, Lung & Circulation 2019; online first: 24 December
Abstract: Familial hypercholesterolaemia (FH) is caused by a major genetic defect in the low-density lipoprotein (LDL) clearance pathway. Characterised by LDL-cholesterol elevation from birth, FH confers a significant risk for premature coronary artery disease (CAD) if overlooked and untreated. With risk exposure beginning at birth, early detection and intervention is crucial for the prevention of CAD. Lowering LDL-cholesterol with lifestyle and statin therapy can reduce the risk of CAD. However, most individuals with FH will not reach guideline recommended LDL-cholesterol targets. FH has an estimated prevalence of approximately 1:250 in the community. Multiple strategies are required for screening, diagnosing and treating FH. Recent publications on FH provide new data for developing models of care, including new therapies. This review provides an overview of FH and outlines some recent advances in the care of FH for the prevention of CAD in affected families. The future care of FH in Australia should be developed within the context of the National Health Genomics Policy Framework.
DOI: 10.1016/j.hlc.2019.12.002
Journal: Heart, Lung & Circulation
PubMed URL: 31974028
Type: Journal Article
Subjects: Diagnosis
Familial hypercholesterolaemia
Heart disease
Appears in Collections:Journal articles

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