Department of Gastroenterology and Hepatology, Radboud Institute for Health Sciences, Radboud University Medical Centre, Nijmegen, The Netherlands.
Aliment Pharmacol Ther. 2021 Oct;54(7):868-879. doi: 10.1111/apt.16558. Epub 2021 Aug 12.
Current guidelines recommend different screening approaches for individuals with a family history of Barrett's oesophagus (BO) or oesophageal adenocarcinoma (OAC), varying from no screening to screening all individuals with a positive family history.
To determine evidence-based risk estimates for individuals with a family history of BO or OAC METHODS: We systematically searched Pubmed, Embase and Cochrane Library until October 2020 to identify all studies that reported on the association between family history and the risk of BO and OAC. Pooled summary estimates of adjusted relative risks and prevalence of familial BO/OAC with 95% confidence intervals (CIs) were calculated using a random effects model.
Fourteen studies comprising 16 189 BO/OAC patients were analysed. Familial clustering was seen in 8.84% (95% CI: 5.54-13.82) and 4.37% (95% CI: 2.15-8.69) of patients with BO and OAC, respectively (nine studies). Screening first-degree relatives of BO patients had a diagnostic yield between 12% and 44% for BO (four studies). However, the yield for high-grade dysplasia and OAC was low (<2%). Individuals with a positive family history had a higher risk of having BO (aRR 3.26; 95% CI 1.43-7.40; I = 46%; three studies) and OAC (aRR 2.19; 95% CI 1.14-4.21; I = 48%; five studies) compared to individuals without a family history.
A verified family history of BO or OAC is a strong risk factor for both BO and OAC. A positive family history could be a clinically meaningful way to identify high-risk individuals who may benefit from early detection strategies.
目前的指南建议对有 Barrett 食管 (BO) 或食管腺癌 (OAC) 家族史的个体采用不同的筛查方法,从对所有阳性家族史个体进行筛查到不进行筛查不等。
确定有 BO 或 OAC 家族史个体的循证风险估计。
我们系统地检索了 Pubmed、Embase 和 Cochrane Library,直到 2020 年 10 月,以确定所有报告家族史与 BO 和 OAC 风险之间关联的研究。使用随机效应模型计算调整后相对风险和家族性 BO/OAC 患病率的汇总估计值及其 95%置信区间 (CI)。
分析了包括 16189 例 BO/OAC 患者的 14 项研究。分别有 8.84%(95%CI:5.54-13.82)和 4.37%(95%CI:2.15-8.69)的 BO 和 OAC 患者存在家族聚集现象(9 项研究)。对 BO 患者一级亲属进行筛查的诊断率为 12%至 44%(4 项研究)。然而,高级别异型增生和 OAC 的检出率较低(<2%)。有阳性家族史的个体患 BO(aRR 3.26;95%CI 1.43-7.40;I 2=46%;3 项研究)和 OAC(aRR 2.19;95%CI 1.14-4.21;I 2=48%;5 项研究)的风险高于无家族史的个体。
经证实的 BO 或 OAC 家族史是 BO 和 OAC 的强烈危险因素。阳性家族史可能是识别可能受益于早期检测策略的高危个体的一种有临床意义的方法。