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 cholesteroland premature coronary heart disease. There are at least 45,000 people with FH in Australia and New Zealand, but the vast majority remainsundetected 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 consensusmodel of care (MoC) for FH. The MoC is based on clinical experience, expert opinion, published evidence and consultations with a widespectrum of stakeholders, and has been developed for use primarily by specialist centres intending starting a clinical service for FH. This MoCaims 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 backbonefor detecting new cases of FH, is detailed. Guidance on treatment is based on risk stratifying patients, management of non-cholesterol riskfactors, safe and effective use of statins, and a rational approach to follow-up of patients. Clinical and laboratory recommendations are givenfor 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.