School of Medicine, Faculty of Health and Medical Sciences, University of Western Australia, Perth, WA, Australia; Lipid Disorders Clinic, Cardiometabolic Service, Departments of Cardiology and Internal Medicine, Royal Perth Hospital, Perth, WA, Australia.
Department of Chemical Pathology, Royal Prince Alfred Hospital, Sydney, NSW, Australia; Sydney Medical School, Faculty of Medicine and Health, University of Sydney, Sydney, NSW, Australia.
Heart Lung Circ. 2021 Mar;30(3):324-349. doi: 10.1016/j.hlc.2020.09.943. Epub 2020 Dec 9.
Familial hypercholesterolaemia (FH) is a dominant and highly penetrant monogenic disorder present from birth that markedly elevates plasma low-density lipoprotein (LDL)-cholesterol concentration and, if untreated, leads to premature atherosclerosis and coronary artery disease (CAD). There are approximately 100,000 people with FH in Australia. However, an overwhelming majority of those affected remain undetected and inadequately treated, consistent with FH being a leading challenge for public health genomics. To further address the unmet need, we provide an updated guidance, presented as a series of systematically collated recommendations, on the care of patients and families with FH. These recommendations have been informed by an exponential growth in published works and new evidence over the last 5 years and are compatible with a contemporary global call to action on FH. Recommendations are given on the detection, diagnosis, assessment and management of FH in adults and children. Recommendations are also made on genetic testing and risk notification of biological relatives who should undergo cascade testing for FH. Guidance on management is based on the concepts of risk re-stratification, adherence to heart healthy lifestyles, treatment of non-cholesterol risk factors, and safe and appropriate use of LDL-cholesterol lowering therapies, including statins, ezetimibe, proprotein convertase subtilisin/kexin type 9 inhibitors and lipoprotein apheresis. Broad recommendations are also provided for the organisation and development of health care services. Recommendations on best practice need to be underpinned by good clinical judgment and shared decision making with patients and families. Models of care for FH need to be adapted to local and regional health care needs and available resources. A comprehensive and realistic implementation strategy, informed by further research, including assessments of cost-benefit, will be required to ensure that this new guidance benefits all Australian families with or at risk of FH.
家族性高胆固醇血症（FH）是一种从出生起就存在的显性且高度外显的单基因疾病，可明显升高血浆低密度脂蛋白（LDL）-胆固醇浓度，如果未得到治疗，会导致早发性动脉粥样硬化和冠心病（CAD）。澳大利亚约有 10 万人患有 FH。然而，绝大多数受影响的人仍未被发现且治疗不足，这与 FH 是公共卫生基因组学的主要挑战一致。为了进一步满足未满足的需求，我们提供了一份更新的指导意见，以一系列系统整理的建议呈现，内容涉及 FH 患者和家庭的护理。这些建议是根据过去 5 年来发表的大量文献和新证据而得出的，与 FH 行动的当代全球呼吁相一致。建议涵盖了成人和儿童 FH 的检测、诊断、评估和管理。还就遗传检测和应进行 FH 级联检测的生物学亲属的风险通知提出了建议。管理指南基于风险重新分层、坚持心脏健康的生活方式、治疗非胆固醇风险因素以及安全和适当使用 LDL-胆固醇降低疗法（包括他汀类药物、依折麦布、前蛋白转化酶枯草溶菌素/克氏蛋白酶 9 抑制剂和脂蛋白吸附）的概念。还为医疗保健服务的组织和发展提供了广泛的建议。最佳实践建议需要以良好的临床判断为基础，并与患者和家属共同做出决策。FH 的护理模式需要适应当地和区域的医疗保健需求和可用资源。需要制定一项全面且现实的实施策略，包括进一步的成本效益评估，以确保这项新的指导意见使所有澳大利亚有 FH 或有 FH 风险的家庭受益。
