Department of Genomic Health, Geisinger, Danville, Pennsylvania, USA.
J Am Coll Cardiol. 2023 Oct 10;82(15):1558-1563. doi: 10.1016/j.jacc.2023.07.028.
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.
儿童期家族性高胆固醇血症（FH）的筛查仍存在争议。尽管现有的指南在证据和缺乏证据的领域基本达成一致，但仍为临床医生提供了相互矛盾的建议，包括缺乏长期临床试验表明筛查可减少冠心病事件，以及他汀类药物副作用的长期数据。现有循证框架的一个局限性是依赖于 1 种证据分级系统来确定建议。然而，与 FH 相关的替代严格的证据评估方法是存在的。FH 被认为是一种 1 级遗传性疾病，这意味着识别和治疗可以改善受影响人群的健康结果。FH 的主要后果——低密度脂蛋白胆固醇升高，可被认为是动脉粥样硬化和冠心病的病因。将这些概念纳入现有的证据途径可以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，从而为 FH 的儿科筛查提供更有力的证据。
