Division of Pediatric Gastroenterology and Hepatology, Mayo Clinic, Rochester, Minnesota.
Division of Biomedical Statistics and Informatics, Mayo Clinic, Rochester, Minnesota.
Mayo Clin Proc. 2019 Sep;94(9):1807-1813. doi: 10.1016/j.mayocp.2019.03.027. Epub 2019 Aug 22.
To investigate the prevalence of first-degree relatives (FDRs) with celiac disease detected at screening and diagnostic significance of anti-tissue transglutaminase (anti-TTG).
We performed a retrospective cohort study of 104 patients with a diagnosis of celiac disease and their FDRs, collecting data from electronic records of Mayo Clinic and celiac disease registry from December 20, 1983, to May 22, 2017. We collected demographics, presenting symptoms, indication for testing, family history, number of other family members screened, biopsy reports, and results of serologic tests.
Of 477 FDRs identified, 360 were screened (mean screening rate per family, 79%±25%) and 160 FDRs (44.4%) were diagnosed with celiac disease, at a mean age 31.9±21.6 years (62% female). All diagnosed FDRs had positive anti-TTG titers. Clinical features were documented in 148 diagnosed FDRs, of those 9 (6%) had classic, 97 (66%) had non-classic symptoms, and 42(28%) had no reported symptoms. Histology reports were available from 155 FDRs: 12 (8%) had Marsh 1, 77 (50%) had Marsh 3a, and 66 (43%) had Marsh 3b. A level of anti-TTG greater than or equal to 2.75 of the upper limit of normal identified FDRs with villous atrophy with 87% sensitivity, 82% specificity, and a positive predictive value of 95%.
In a retrospective cohort study of patients diagnosed with celiac disease, we found a high prevalence of celiac disease among screened FDRs. High anti-TTG titers associated with villous atrophy on small bowel biopsies, irrespective of symptoms.
调查筛查时发现的一级亲属（FDRs）中乳糜泻的患病率以及抗组织转谷氨酰胺酶（anti-TTG）的诊断意义。
我们对 104 例乳糜泻患者及其 FDRs 进行了回顾性队列研究，从 1983 年 12 月 20 日至 2017 年 5 月 22 日，收集了梅奥诊所电子病历和乳糜泻登记处的数据。我们收集了人口统计学资料、临床表现、检测指征、家族史、筛查的其他家庭成员数量、活检报告和血清学检测结果。
在 477 名 FDRs 中，有 360 名接受了筛查（每个家庭的平均筛查率为 79%±25%），有 160 名 FDRs（44.4%）被诊断为乳糜泻，平均年龄为 31.9±21.6 岁（62%为女性）。所有被诊断为乳糜泻的 FDRs 的抗 TTG 滴度均为阳性。在 148 名被诊断为乳糜泻的 FDRs 中记录了临床特征，其中 9 名（6%）有典型症状，97 名（66%）有非典型症状，42 名（28%）无报告症状。155 名 FDRs 的组织学报告：12 名（8%）有 Marsh 1 型，77 名（50%）有 Marsh 3a 型，66 名（43%）有 Marsh 3b 型。抗 TTG 水平大于或等于正常上限的 2.75 倍可识别出绒毛萎缩的 FDRs，其敏感性为 87%，特异性为 82%，阳性预测值为 95%。
在一项对确诊乳糜泻患者的回顾性队列研究中，我们发现筛查出的 FDRs 中乳糜泻的患病率很高。高滴度的抗 TTG 与小肠活检的绒毛萎缩相关，而与症状无关。
