Familial hypercholesterolaemia: A model of care for Australasia

Gerald F. Watts, David R. Sullivan, Nicola Poplawski, Frank van Bockxmeer, Ian Hamilton-Craig, Peter M. Clifton, Richard O'Brien, Warrick Bishop, Peter George, Phillip J. Barter, Timothy Bates, John R. Burnett, John Coakley, Patricia Davidson, Jon Emery, Andrew Martin, Waleed Farid, Lucinda Freeman, Elizabeth Geelhoed, Amanda JuniperAlexa Kidd, Karam Kostner, Ines Krass, Michael Livingston, Suzy Maxwell, Peter O'Leary, Amal Owaimrin, Trevor G. Redgrave, Nicola Reid, Lynda Southwell, Graeme Suthers, Andrew Tonkin, Simon Towler, Ronald Trent

Research output: Contribution to journalReview article

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.

Original languageEnglish (US)
Pages (from-to)221-263
Number of pages43
JournalAtherosclerosis Supplements
Volume12
Issue number2
DOIs
StatePublished - Oct 1 2011
Externally publishedYes

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Keywords

  • Adolescents
  • Adults
  • Assessment
  • Cascade screening
  • Children
  • Diagnosis
  • Familial hypercholesterolaemia
  • Genetic testing
  • Model of care
  • Treatment

ASJC Scopus subject areas

  • Internal Medicine
  • Cardiology and Cardiovascular Medicine

Cite this

Watts, G. F., Sullivan, D. R., Poplawski, N., van Bockxmeer, F., Hamilton-Craig, I., Clifton, P. M., O'Brien, R., Bishop, W., George, P., Barter, P. J., Bates, T., Burnett, J. R., Coakley, J., Davidson, P., Emery, J., Martin, A., Farid, W., Freeman, L., Geelhoed, E., ... Trent, R. (2011). Familial hypercholesterolaemia: A model of care for Australasia. Atherosclerosis Supplements, 12(2), 221-263. https://doi.org/10.1016/j.atherosclerosissup.2011.06.001