BACKGROUND First-degree relatives (FDRs) of patients with celiac disease (CeD) are at high risk for developing CeD. We conducted a systematic review and meta-analysis to estimate CeD prevalence and clinical manifestations by analyzing studies that used the anti-tissue transglutaminase (tTG) antibody test for screening. METHODS In this systematic review with meta-analysis, studies published in PubMed, Web of Science, Embase, and Scopus were searched up to January 11, 2024, using keywords related to CeD and FDRs. Random-effects models were employed, with heterogeneity assessed using Cochran's Q test and the I2 statistic performed in STATA 18. RESULTS Of 8764 studies screened, 34 studies involving 10,016 FDRs of CeD patients were included. The pooled estimates for seroprevalence and the biopsy-confirmed CeD prevalence in FDRs were 11% (95% CI: 9-13%) and 7% (95% CI: 6-9%), respectively. Daughters and sisters had the highest prevalence rates at 23% and 14%, compared to sons and brothers at 6% and 9%, respectively. Regional analysis revealed the highest seroprevalence estimates in Hungary (24%) and Cuba (19%), while the highest prevalence of biopsy-confirmed CeD was reported in Serbia (16%) and the USA (15%). Abdominal pain (42%), bloating (39%), and flatulence (38%) were the most common gastrointestinal (GI) symptoms, while 34% of FDRs with CeD were asymptomatic. Additionally, pallor was the most frequent non-GI symptom (54%). CONCLUSION Approximately 1 in 14 FDRs of CeD patients is estimated to have CeD, with 1 in 4 daughters, 1 in 7 sisters, 1 in 11 brothers, 1 in 16 sons, and 1 in 20 fathers and mothers could be affected. Routine screening for FDRs could support early detection and management of CeD.

中文翻译：

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一级亲属乳糜泻的全球患病率和临床表现：系统评价和荟萃分析。


背景乳糜泻 （CeD） 患者的一级亲属 （FDR） 患 CeD 的风险很高。我们进行了一项系统评价和荟萃分析，通过分析使用抗组织转谷氨酰胺酶 （tTG） 抗体检测进行筛查的研究来估计 CeD 患病率和临床表现。方法 在这项带有荟萃分析的系统评价中，使用与 CeD 和 FDR 相关的关键字检索了截至 2024 年 1 月 11 日发表在 PubMed、Web of Science、Embase 和 Scopus 上的研究。采用随机效应模型，使用 Cochran Q 检验和 STATA 18 中执行的 I2 统计量评估异质性。结果 在筛选的 8764 项研究中，纳入了 34 项研究，涉及 10,016 例 CeD 患者的 FDR。FDR 血清阳性率和活检证实的 CeD 患病率的汇总估计值分别为 11% （95% CI： 9-13%） 和 7% （95% CI： 6-9%）。女儿和姐妹的患病率最高，分别为 23% 和 14%，而儿子和兄弟的患病率分别为 6% 和 9%。区域分析显示，匈牙利 （24%） 和古巴 （19%） 的血清阳性率估计值最高，而塞尔维亚 （16%） 和美国 （15%） 报告的活检确诊 CeD 患病率最高。腹痛 （42%）、腹胀 （39%） 和胀气 （38%） 是最常见的胃肠道 （GI） 症状，而 34% 的 CeD 罗斯福患者没有症状。此外，苍白是最常见的非胃肠道症状 （54%）。结论 据估计，每 14 名 FDR 中约有 1 名患有 CeD，其中 1/4 的女儿、1/7 的姐妹、11 个兄弟中的 1 个、16 个儿子中的 1 个和 20 个父亲和母亲中的 1 个可能受到影响。FDR 的常规筛查可以支持 CeD 的早期发现和管理。