The Role of Reverse Cascade Screening in Children with Familial Hypercholesterolemia: A Literature Review and Analysis.

IF 5.7 2区医学 Q1 PERIPHERAL VASCULAR DISEASE

Current Atherosclerosis Reports Pub Date : 2024-08-01 Epub Date: 2024-06-18 DOI:10.1007/s11883-024-01211-9

Ryan Lokkesmoe, Luke Hamilton

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引用次数: 0

Abstract

Purpose of review: Familial Hypercholesterolemia (FH) is a common genetic disorder characterized by lifelong elevation of severely elevated plasma low-density lipoprotein cholesterol. Atherosclerotic cardiovascular disease (ASCVD) risk accelerates after age 20. Early diagnosis allows for treatment of children with FH and creates an opportunity to identify affected relatives through reverse cascade screening (RCS). Historically, cascade screening has had little impact on identifying individuals with FH.

Recent findings: Universal cholesterol screening (UCS) to identify youth with FH, beginning at 9-11 years-of-age, is currently recommended in the U.S. The European Atherosclerosis Society has called for UCS worldwide, emphasizing the need for educational programs to increase awareness amongst healthcare professions. Underdiagnoses and undertreatment of FH remain high. Improved rates of UCS and a systematic approach to RCS are needed. The absence of a coordinated RCS program limits the benefits of UCS. Further research is needed to identify barriers to cholesterol screening in youth.

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反向级联筛查在家族性高胆固醇血症儿童中的作用：文献回顾与分析。

综述目的：家族性高胆固醇血症（FH）是一种常见的遗传性疾病，其特点是血浆低密度脂蛋白胆固醇终身严重升高。动脉粥样硬化性心血管疾病（ASCVD）的风险在 20 岁以后会加速。早期诊断可为患有 FH 的儿童提供治疗，并为通过反向级联筛查 (RCS) 识别受影响的亲属创造机会。从历史上看，级联筛查对识别 FH 患者的影响很小：欧洲动脉粥样硬化协会呼吁在全球范围内开展普遍胆固醇筛查（UCS），并强调有必要开展教育项目以提高医疗保健专业人员的认识。FH 的漏诊率和治疗率仍然很高。需要提高UCS率，并采用系统的RCS方法。缺乏协调的 RCS 计划限制了 UCS 的效益。需要进一步开展研究，以确定青少年胆固醇筛查的障碍。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Current Atherosclerosis Reports 医学-

CiteScore

9.00

自引率

3.40%

发文量

审稿时长

6-12 weeks

期刊介绍： The aim of this journal is to systematically provide expert views on current basic science and clinical advances in the field of atherosclerosis and highlight the most important developments likely to transform the field of cardiovascular prevention, diagnosis, and treatment. We accomplish this aim by appointing major authorities to serve as Section Editors who select leading experts from around the world to provide definitive reviews on key topics and papers published in the past year. We also provide supplementary reviews and commentaries from well-known figures in the field. An Editorial Board of internationally diverse members suggests topics of special interest to their country/region and ensures that topics are current and include emerging research.