title: Challenges in the care of familial hypercholesterolemia: a community care perspective.
abstract: Familial hyperchoelsterolaemia (FH) remains under-diagnosed and under-treated in the community setting. Earlier evidence suggested a prevalence of 1:500 worldwide but newer evidence suggests it is more common. Less than 15% of FH patients are ever diagnosed, with children and young adults rarely tested despite having the most to gain given their lifetime exposure. Increasing awareness among primary care teams is critical to improve the detection profile for FH. Cascade testing in the community setting needs a sustainable approach to be developed to facilitate family tracing of index cases. The use of the Dutch Lipid Clinic Network Criteria score to facilitate a phenotypic diagnosis is the preferred approach adopted in Australia and eliminates the need to undertake genetic testing for all suspected FH cases.
authors: a 1 General Practice and Primary Health Care Research, School of Medicine, The University of Notre Dame Australia, Fremantle, Western Australia, Australia.
authors: Tom
authors: T
authors: Brett
authors: b 2 School of Medicine and Pharmacology, University of Western Australia, Perth, Western Australia, Australia.|c 3 Lipid Disorders Clinic, Cardiometabolic Services, Royal Perth Hospital, Western Australia, Australia.
authors: Gerald F
authors: GF
authors: Watts
authors: a 1 General Practice and Primary Health Care Research, School of Medicine, The University of Notre Dame Australia, Fremantle, Western Australia, Australia.
authors: Diane E
authors: DE
authors: Arnold-Reed
authors: Damon A
authors: DA
authors: Bell
authors: f 6 Cardiovascular Health Network, Department of Heath Western Australia, Perth, Western Australia, Australia.|g 7 Clinical Services, Royal Perth Hospital, Perth, Western Australia, Australia.
authors: Jacquie
authors: J
authors: Garton-Smith
authors: h 8 School of Primary, Aboriginal and Rural Health Care, University of Western Australia, Crawley, Western Australia, Australia.
authors: Alistair W
authors: AW
authors: Vickery
authors: b 2 School of Medicine and Pharmacology, University of Western Australia, Perth, Western Australia, Australia.
authors: Jacqueline D M
authors: JD
authors: Ryan
authors: b 2 School of Medicine and Pharmacology, University of Western Australia, Perth, Western Australia, Australia.
authors: Jing
authors: J
authors: Pang
mesh_terms: D008078:Cholesterol, LDL / Q000097:blood*; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000175:diagnosis / Q000628:therapy*
chemical_list: D008078:Cholesterol, LDL
keywords: Dutch Lipid Clinic Network Criteria; cardiovascular disease; cascade testing; familial hypercholesterolaemia; index case; phenotypic testing; prevalence; primary–tertiary care management; statins