Very Early Onset Eosinophilic Esophagitis is Common, Responds to Standard Therapy, and Demonstrates Enrichment for CAPN14 Genetic Variants

Abstract 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 ≤12 months (V-EoE, n=57) and 14-18 years (L-EoE, n=70) of age. These patients underwent medical record, EoE Histology Scoring System, Endoscopic Reference Score, and EoE Diagnostic Panel assessment when sample availability permitted. Genetic association utilized two EoE genotype repositories. Data were analyzed using chi-square, t-tests, Wilcoxon rank sum, Spearman correlations, cluster analysis, and logistic regression. Results Amongst pediatric patients with EoE, diagnosis most commonly occurred within early life (0-24 mo, 17%). V-EoE was more likely to attain histologic remission via dietary restriction (p 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. Caesarean delivery and CAPN14 genetic variation likely promote earlier disease development.