title: Familial hypercholesterolaemia: a model of care for Australasia.
abstract: Familial hypercholesterolaemia (FH) is a dominantly inherited disorder present from birth that causes marked elevation in plasma cholesterol and premature coronary heart disease. There are at least 45,000 people with FH in Australia and New Zealand, but the vast majority remains undetected and those diagnosed with the condition are inadequately treated. To bridge this major gap in coronary prevention the FH Australasia Network (Australian Atherosclerosis Society) has developed a consensus model of care (MoC) for FH. The MoC is based on clinical experience, expert opinion, published evidence and consultations with a wide spectrum of stakeholders, and has been developed for use primarily by specialist centres intending starting a clinical service for FH. This MoC aims to provide a standardised, high-quality and cost-effective system of care that is likely to have the highest impact on patient outcomes. The MoC for FH is presented as a series of recommendations and algorithms focusing on the standards required for the detection, diagnosis, assessment and management of FH in adults and children. The process involved in cascade screening and risk notification, the backbone for detecting new cases of FH, is detailed. Guidance on treatment is based on risk stratifying patients, management of non-cholesterol risk factors, safe and effective use of statins, and a rational approach to follow-up of patients. Clinical and laboratory recommendations are given for genetic testing. An integrative system for providing best clinical care is described. This MoC for FH is not prescriptive and needs to be complemented by good clinical judgment and adjusted for local needs and resources. After initial implementation, the MoC will require critical evaluation, development and appropriate modification.
authors.affiliation: Lipid Disorders Clinic, Metabolic Research Centre and Department of Internal Medicine, Royal Perth Hospital, School of Medicine and Pharmacology, University of Western Australia, Perth, Western Australia, Australia. gerald.watts@uwa.edu.au
authors.forename: Gerald F
authors.initials: GF
authors.lastname: Watts
authors.forename: David R
authors.initials: DR
authors.lastname: Sullivan
authors.forename: Nicola
authors.initials: N
authors.lastname: Poplawski
authors.forename: Frank
authors.initials: F
authors.lastname: van Bockxmeer
authors.forename: Ian
authors.initials: I
authors.lastname: Hamilton-Craig
authors.forename: Peter M
authors.initials: PM
authors.lastname: Clifton
authors.forename: Richard
authors.initials: R
authors.lastname: O'Brien
authors.forename: Warrick
authors.initials: W
authors.lastname: Bishop
authors.forename: Peter
authors.initials: P
authors.lastname: George
authors.forename: Phillip J
authors.initials: PJ
authors.lastname: Barter
authors.forename: Timothy
authors.initials: T
authors.lastname: Bates
authors.forename: John R
authors.initials: JR
authors.lastname: Burnett
authors.forename: John
authors.initials: J
authors.lastname: Coakley
authors.forename: Patricia
authors.initials: P
authors.lastname: Davidson
authors.forename: Jon
authors.initials: J
authors.lastname: Emery
authors.forename: Andrew
authors.initials: A
authors.lastname: Martin
authors.forename: Waleed
authors.initials: W
authors.lastname: Farid
authors.forename: Lucinda
authors.initials: L
authors.lastname: Freeman
authors.forename: Elizabeth
authors.initials: E
authors.lastname: Geelhoed
authors.forename: Amanda
authors.initials: A
authors.lastname: Juniper
authors.forename: Alexa
authors.initials: A
authors.lastname: Kidd
authors.forename: Karam
authors.initials: K
authors.lastname: Kostner
authors.forename: Ines
authors.initials: I
authors.lastname: Krass
authors.forename: Michael
authors.initials: M
authors.lastname: Livingston
authors.forename: Suzy
authors.initials: S
authors.lastname: Maxwell
authors.forename: Peter
authors.initials: P
authors.lastname: O'Leary
authors.forename: Amal
authors.initials: A
authors.lastname: Owaimrin
authors.forename: Trevor G
authors.initials: TG
authors.lastname: Redgrave
authors.forename: Nicola
authors.initials: N
authors.lastname: Reid
authors.forename: Lynda
authors.initials: L
authors.lastname: Southwell
authors.forename: Graeme
authors.initials: G
authors.lastname: Suthers
authors.forename: Andrew
authors.initials: A
authors.lastname: Tonkin
authors.forename: Simon
authors.initials: S
authors.lastname: Towler
authors.forename: Ronald
authors.initials: R
authors.lastname: Trent
mesh_terms: D000293:Adolescent; D000328:Adult; D000924:Anticholesteremic Agents / Q000627:therapeutic use*; D001055:Apolipoproteins B / Q000097:blood*; D050197:Atherosclerosis / Q000175:diagnosis; D044362:Australasia; D001781:Blood Component Removal; D002648:Child; D008078:Cholesterol, LDL / Q000097:blood*; D003327:Coronary Disease / Q000175:diagnosis; D005260:Female; D006801:Humans; D019161:Hydroxymethylglutaryl-CoA Reductase Inhibitors / Q000627:therapeutic use; D006938:Hyperlipoproteinemia Type II / Q000150:complications / Q000175:diagnosis / Q000628:therapy*; D010346:Patient Care Management; D012307:Risk Factors
chemical_list: D000924:Anticholesteremic Agents; D001055:Apolipoproteins B; D008078:Cholesterol, LDL; D019161:Hydroxymethylglutaryl-CoA Reductase Inhibitors