Napier Kathryn R, Pang Jing, Lamont Leanne, Walker Caroline E, Dawkins Hugh Js, Hunter Adam A, Bockxmeer Frank M van, Watts Gerald F, Bellgard Matthew I
Centre for Comparative Genomics, Murdoch University, Perth, WA, Australia.
School of Medicine and Pharmacology, University of Western Australia, Perth, WA, Australia.
Heart Lung Circ. 2017 Jun;26(6):635-639. doi: 10.1016/j.hlc.2016.10.019. Epub 2016 Nov 30.
Familial hypercholesterolaemia (FH) is the most common and serious monogenic disorder of lipoprotein metabolism that leads to premature coronary heart disease. Patients with FH are often under-treated, and many remain undiagnosed. The deployment of the FH Australasia Network Registry is a crucial component of the comprehensive model of care for FH, which 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 FH Australasia Network Registry was customised using a registry framework that is an open source, interoperable system that enables the efficient customisation and deployment of national and international web-based disease registries that can be modified dynamically as registry requirements evolve. The FH Australasia Network Registry can be employed to improve health services for FH patients across the Australasia-Pacific region, through the collation of data to facilitate clinical service planning, clinical trials, clinical audits, and to inform clinical best practice.
家族性高胆固醇血症（FH）是脂蛋白代谢中最常见且最严重的单基因疾病，可导致早发性冠心病。FH患者常常治疗不足，还有许多人未被诊断出来。澳大利亚和新西兰FH网络注册中心的设立是FH综合护理模式的关键组成部分，其目的是提供一个标准化、高质量且具有成本效益的护理系统，这可能会对患者的治疗结果产生最大影响。澳大利亚和新西兰FH网络注册中心是使用一个注册框架定制的，该框架是一个开源、可互操作的系统，能够高效定制和部署基于网络的国家和国际疾病注册中心，并且可以随着注册要求的演变而动态修改。通过整理数据以促进临床服务规划、临床试验、临床审计并为临床最佳实践提供信息，澳大利亚和新西兰FH网络注册中心可用于改善亚太地区FH患者的医疗服务。
