Cardiometabolic Service, Department of Internal Medicine, Royal Perth Hospital, School of Medicine and Pharmacology, The University of Western Australia, GPO Box X2213, Perth, WA 6847, Australia.
Cardiology Division, Nemours Cardiac Center, A. I. duPont Hospital for Children, Wilmington, DE, USA; Jefferson Medical College, Philadelphia, PA, USA.
J Clin Lipidol. 2014 Mar-Apr;8(2):148-72. doi: 10.1016/j.jacl.2014.01.002. Epub 2014 Jan 16.
Familial hypercholesterolemia (FH) is a dominantly inherited disorder present from birth that markedly elevates plasma low-density lipoprotein cholesterol and causes premature coronary heart disease. There are at least 20 million people with FH worldwide, but the majority remains undetected, and current treatment is often suboptimal. To address this major gap in coronary prevention we present, from an international perspective, consensus-based guidance on the care of FH. The guidance was generated from seminars and workshops held at an international symposium. The recommendations focus on the detection, diagnosis, assessment, and management of FH in adults and children and set guidelines for clinical purposes. They also refer to best practice for cascade screening and risk notifying and testing families for FH, including use of genetic testing. Guidance on treatment is based on risk stratification, management of noncholesterol risk factors, and the safe and effective use of low-density lipoprotein-lowering therapies. Recommendations are given on lipoprotein apheresis. The use of emerging therapies for FH is also foreshadowed. This international guidance acknowledges evidence gaps but aims to make the best use of contemporary practice and technology to achieve the best outcomes for the care of FH. It should accordingly be used to inform clinical judgment and be adjusted for country-specific and local healthcare needs and resources.
家族性高胆固醇血症（FH）是一种从出生就存在的显性遗传性疾病，可显著升高血浆低密度脂蛋白胆固醇，导致早发性冠心病。全世界至少有 2000 万人患有 FH，但大多数人尚未被发现，目前的治疗往往也不尽人意。为了解决这一在冠状动脉预防方面的重大差距，我们从国际视角出发，为 FH 的护理提供了基于共识的指导意见。该指导意见源自在一次国际研讨会上举办的研讨会和讲习班。这些建议重点关注 FH 在成人和儿童中的检测、诊断、评估和管理，并为临床目的制定了指南。它们还提到了针对 FH 的级联筛查和风险通知以及对家庭进行检测的最佳实践，包括基因检测的应用。治疗方面的建议基于风险分层、非胆固醇危险因素的管理，以及安全有效的使用降低低密度脂蛋白的疗法。还针对脂蛋白吸附术提供了建议。FH 新兴疗法的应用也被提上了议程。本国际指南承认存在证据差距，但旨在充分利用当代实践和技术，为 FH 的护理取得最佳结果。因此，它应该用于为临床判断提供信息，并根据国家和当地的医疗保健需求和资源进行调整。
