Abstract：
Screening for familial hypercholesterolemia (FH) in childhood remains controversial. Existing guidelines offer practitioners conflicting advice despite generally agreeing on the evidence and areas in which evidence is lacking, including a lack of long-term clinical trials demonstrating coronary event reduction as a result of screening and long-term data on statin side effects. A limitation of existing evidence-based frameworks is reliance on 1 evidence grading system to determine recommendations. However, rigorous evidence evaluation alternatives relevant to FH exist. FH is considered a tier 1 genetic condition, meaning that identification and treatment will improve health outcomes among those affected. Elevated low-density lipoprotein cholesterol, the primary consequence of FH, can be considered causal for atherosclerosis and coronary heart disease. Incorporating these concepts into existing evidence pathways allows the inclusion of surrogate clinical trial outcomes (low-density lipoprotein cholesterol reduction and atherosclerosis regression) and observational data on medication safety, strengthening the evidence for pediatric screening for FH.
摘要：
儿童家族性高胆固醇血症（FH）的筛查仍存在争议。现有的指导方针为从业者提供了相互矛盾的建议，尽管他们普遍同意证据和缺乏证据的领域。包括缺乏长期临床试验证明由于筛查和他汀类药物副作用的长期数据导致冠状动脉事件减少.现有基于证据的框架的局限性在于依赖于1个证据分级系统来确定建议。然而,存在与FH相关的严格证据评估替代方案。FH被认为是一级遗传条件，这意味着识别和治疗将改善受影响者的健康结果。低密度脂蛋白胆固醇升高，FH的主要后果，可以认为是动脉粥样硬化和冠心病的原因。将这些概念纳入现有的证据途径允许纳入替代临床试验结果（低密度脂蛋白胆固醇降低和动脉粥样硬化消退）和药物安全性的观察数据。加强儿科筛查FH的证据。
