A. Juniper

Familial hypercholesterolaemia: A model of care for Australasia

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.

A systematic review of economic evaluations of the detection and treatment of familial hypercholesterolemia.

OBJECTIVES To systematically evaluate the cost-effectiveness of screening and treatment of familial hypercholesterolaemia (FH). METHODS An extensive search strategy using MeSH terms was used to search Medline, Embase, EBM review (includes databases such as the Centre for Reviews and Dissemination database), the NHS Economic-Evaluation Database, the HTA database, the Cochrane Library and the Database of Abstracts of Reviews of Effects. Completed studies that evaluated cost-effectiveness of treatment and screening of FH were included. Two reviewers independently assessed the quality of the studies. The studies were assessed using the Consensus on Health-Economic Criteria and a published checklist for evaluating model-based economic evaluations (EE). RESULTS Nine studies were identified. Three studies that focused on lipid-lowering treatment among patients with known FH suggested this strategy is highly cost-effective. Six studies reported on the cost-effectiveness of FH screening, and subsequent treatment of those identified with the condition. Compared with no screening, the incremental cost-effectiveness ratio of screening ranged from €3177-€29,554 per life year gained. The results of modelled EE were sensitive to the underlying prevalence of FH among the population being screened, the validity of the screening test and the price and efficacy of lipid-lowering therapy. CONCLUSION Overall, cascade screening for new cases of FH appears to be cost-effective. However, there were uncertainties in the modelling methods, especially with regard to the underlying prevalence of FH, validity of the screening tests, and use of different approaches to assess the outcomes of treatment. Further health EE based on high quality and country-specific data are required.

Familial hypercholesterolaemia: A review with emphasis on evidence for treatment, new models of care and health economic evaluations

Familial hypercholesterolaemia (FH) is a condition that should be familiar to all health professionals involved in preventive medicine. FH is the most common and serious monogenic disorder of lipid metabolism that leads to premature coronary heart disease. However, most cases remain undetected or inadequately treated in our community. We provide an overview of FH, with emphasis on evidence for treatment, new models of care (MoCs) and health economic evaluations. Evidence for treatment is based on cohort studies; while this is a low level class of evidence, MoCs concur in recommending early intervention and lowering of plasma low-density lipoprotein-cholesterol levels by at least 40% with statins. Preliminary health economic evaluations suggest that detecting and treating FH is cost-effective, but further studies based on high-quality international data and standardised costing methods are needed. If the recommendations in the published MoCs are followed, there is likely to be significant improvement in the health and quality of life of patients with FH and their families, as well as major cost savings in healthcare for end-organ damage, including myocardial infarction, acute coronary syndromes and possibly stroke, but this requires to be verified.

A new model of care for familial hypercholesterolaemia from Western Australia: closing a major gap in preventive cardiology

Familial hypercholesterolaemia (FH) is the most common monogenic cause of premature coronary artery disease. FH remains underdiagnosed and inadequately treated, with no national strategies for dealing with the problem. We report an executive summary of a comprehensive model of care for FH developed in Western Australia.

Assessment of Familial Hypercholesterolaemia in a Regional Community in Western Australia: Comparison Between Primary Care and Specialist Centre

glucose tolerance and reduced fat mass in mice fed HF; responses to KCan were less marked. HF fed mice showed no increase in heart and kidney wt and tissue fibrosis. Cardiac macrophage recruitment and osteopontin staining was increased in hearts of HF fed mice and reversed by DRSP but not Kcan. These data show that the novel MR antagonist DRSP can reverse adipocyte dysfunction and markers of cardiac inflammation induced by HF in an MRdependent manner. MR blockade therefore has promise as a novel therapeutic option for the prevention of metabolic dysfunction and the cardiac consequences of obesity.