Cardiometabolic Service, Royal Perth Hospital, School of Medicine and Pharmacology, University of Western Australia
Cardiology Division, Nemours Cardiac Nemours Cardiac Center, AI duPont Hospital for Children, Wilmington, and Jefferson Medical College, Philadelphia, USA.
Eur J Prev Cardiol. 2015 Jul;22(7):849-54. doi: 10.1177/2047487314533218. Epub 2014 Apr 28.
Familial hypercholesterolaemia (FH) is a dominantly inherited disorder present from birth that markedly elevates plasma low-density lipoprotein (LDL) 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 non-cholesterol risk factors and safe and effective use of LDL 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 employed 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，会显著升高血浆低密度脂蛋白（LDL）胆固醇，导致早发性冠心病。全世界至少有 2000 万人患有 FH，但大多数人仍未被发现，而且目前的治疗往往并不理想。为了解决这一在冠心病预防方面的重大差距，我们从国际视角出发，就 FH 的护理提出了基于共识的指导意见。该指导意见是在一次国际研讨会的专题讨论会和研讨会上制定的。这些建议侧重于在成人和儿童中 FH 的检测、诊断、评估和管理，并为临床目的制定了指导方针。它们还涉及 FH 的级联筛查和风险通知以及对家族进行检测的最佳实践，包括使用基因检测。治疗方面的指导意见基于风险分层、非胆固醇危险因素的管理以及 LDL 降低疗法的安全有效使用。还针对脂蛋白吸附术提供了建议。FH 的新兴疗法的使用也在预料之中。这份国际指导意见承认存在证据差距，但旨在充分利用当代实践和技术，为 FH 的护理提供最佳结果。因此，应将其用于为临床判断提供信息，并根据具体国家和当地的医疗保健需求和资源进行调整。
