Background

Eosinophilic esophagitis (EoE) is a chronic, food antigen–mediated disease characterized by esophageal dysfunction and intraepithelial eosinophil accumulation.

Objective

We hypothesized that very early onset EoE (V-EoE) would be enriched for early-life and genetic factors and have worse presentation and prognosis than later-onset pediatric EoE (L-EoE).

Methods

We conducted a single-site, retrospective review comparing patients diagnosed at age 12 months or less (V-EoE, n = 57) and age 14 to 18 years (L-EoE, n = 70). These patients underwent medical record, EoE Histology Scoring System, Endoscopic Reference Score, and EoE Diagnostic Panel assessment when sample availability permitted. Genetic association used 2 EoE genotype repositories. Data were analyzed using chi-square tests, t tests, Wilcoxon rank-sum tests, Spearman correlations, cluster analysis, and logistic regression.

Results

Among pediatric patients with EoE, diagnosis most commonly occurred within early life (0-24 months, 17%). V-EoE was more likely to attain histologic remission via dietary restriction (P < .0001). Basal zone hyperplasia and eosinophil inflammation were greater in V-EoE (P < .05). Esophageal strictures more commonly occurred in L-EoE (P = .03). V-EoE had lower endoscopic scores (P < .05). Molecular expression was very similar between groups. Cesarean delivery was more common in patients with V-EoE (P = .03). Patients with V-EoE demonstrated enrichment of CAPN14 common genetic variants.

Conclusions

Early-life diagnosis of EoE is a common occurrence. V-EoE responds to standard therapy without early evidence for complications, suggesting a less severe prognosis than hypothesized. Molecular pathogenesis is preserved between V-EoE and L-EoE. Cesarean delivery and CAPN14 genetic variation likely promote earlier disease development.

中文翻译：

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极早发性嗜酸性粒细胞性食管炎很常见，对标准治疗有反应，并显示 CAPN14 遗传变异的富集

背景

嗜酸性粒细胞性食管炎（EoE）是一种慢性、食物抗原介导的疾病，其特征是食管功能障碍和上皮内嗜酸性粒细胞积聚。

客观的

我们假设非常早发性 EoE (V-EoE) 会因早期生命和遗传因素而丰富，并且比晚发性儿科 EoE (L-EoE) 具有更差的表现和预后。

方法

我们进行了一项单点、回顾性审查，比较了诊断为 12 个月或更短（V-EoE，n = 57）和 14 至 18 岁（L-EoE，n = 70）的患者。在样本可用性允许的情况下，这些患者接受了医疗记录、EoE 组织学评分系统、内窥镜参考评分和 EoE 诊断小组评估。遗传关联使用了 2 个 EoE 基因型库。使用卡方检验、t检验、Wilcoxon 秩和检验、Spearman 相关性、聚类分析和逻辑回归分析数据。

结果

在患有 EoE 的儿科患者中，诊断最常见于生命早期（0-24 个月，17%）。V-EoE 更有可能通过饮食限制获得组织学缓解 ( P  < .0001)。V-EoE 的基底区增生和嗜酸性粒细胞炎症更严重 ( P  < .05)。食管狭窄更常见于 L-EoE ( P = .03)。V-EoE 的内窥镜评分较低 ( P < .05)。各组之间的分子表达非常相似。剖宫产在 V-EoE 患者中更为常见 ( P = .03)。V-EoE 患者表现出CAPN14常见遗传变异的富集。

结论

EoE 的早期诊断很常见。V-EoE 对标准治疗有反应，没有并发症的早期证据，表明预后不如假设的严重。V-EoE 和 L-EoE 之间保留了分子发病机制。剖腹产和CAPN14 遗传变异可能会促进疾病的早期发展。