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最新综述:在儿童家族性高胆固醇血症筛查中利用证据和数据(LEAD)的价值。

State-of-the-art review: The value of leveraging evidence and data (LEAD) in pediatric screening for familial hypercholesterolemia.

作者信息

Flyer Jonathan N, Freiberger Tomáš, Ware Adam L, Peterson Amy L

机构信息

Department of Pediatrics, The Robert Larner MD College of Medicine at the University of Vermont, Given Courtyard 2 South, 89 Beaumont Avenue, Burlington, VT 05405 USA.

Centre for Cardiovascular Surgery and Transplantation, Pekařská 53, Brno, 603 00, Czech Republic.

出版信息

Am J Prev Cardiol. 2025 Aug 22;23:101262. doi: 10.1016/j.ajpc.2025.101262. eCollection 2025 Sep.

Abstract

Familial hypercholesterolemia (FH) is a common genetic disorder of lipid metabolism resulting in lifelong elevated levels of low-density lipoprotein cholesterol and early atherosclerotic cardiovascular disease. Although FH can be identified at young ages, it remains frequently undetected, underdiagnosed, and undertreated in the United States and around the world. Despite compelling data to support screening for FH in children, and universal lipid screening guidelines endorsed by the National Heart, Lung and Blood Institute and the American Academy of Pediatrics, screening practices in the United States remain controversial and suboptimal. The Family Heart Foundation launched its LEAD (Leverage Evidence and Data) Pediatric Initiative at the 2024 Family Heart Foundation 10th Annual Global Summit to help understand testing barriers, propose innovative solutions, and integrate improvement science to measure outcomes. Presentations highlighted common challenges with pediatric lipid screening and demonstrated creative process solutions to improve screening prevalence for children. This state-of-the-art review discusses common barriers to pediatric lipid screening, identifies process solutions, and explores innovative practices to increase the frequency of universal pediatric lipid screening.

摘要

家族性高胆固醇血症(FH)是一种常见的脂质代谢遗传性疾病,会导致低密度脂蛋白胆固醇水平终生升高,并引发早期动脉粥样硬化性心血管疾病。尽管FH在年轻时就可被识别,但在美国乃至全球,它仍常常未被发现、诊断不足且治疗不充分。尽管有令人信服的数据支持对儿童进行FH筛查,且美国国立心肺血液研究所和美国儿科学会认可通用脂质筛查指南,但美国的筛查实践仍存在争议且不尽人意。家庭心脏基金会在2024年家庭心脏基金会第十届年度全球峰会上启动了其“利用证据和数据(LEAD)”儿科倡议,以帮助了解检测障碍、提出创新解决方案,并整合改进科学以衡量结果。会议展示突出了儿科脂质筛查的常见挑战,并展示了提高儿童筛查普及率的创新性流程解决方案。这篇前沿综述讨论了儿科脂质筛查的常见障碍,确定了流程解决方案,并探索了提高通用儿科脂质筛查频率的创新实践。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/061a/12445570/92c29390ecc1/gr1.jpg

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