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Are Children with Esophageal Atresia more prone to Eosinophilic Esophagitis?

Published online: October 24, 2018

Eosinophilic esophagitis (EoE) is an emerging chronic food allergy characterized by presence of increased numbers of eosinophils (a type of white blood cell) in the esophagus (food pipe) and associated with esophageal dysfunction (dysphagia). Esophageal atresia (EA) is a rare congenital abnormality in which the upper esophagus ends in a blind pouch and does not connect with the lower esophagus. Typically, children with EA require immediate postnatal repair by surgery. Over years of clinical practice, we found that these children often develop strictures at the surgical repair site, with the esophageal dysfunction resulting in significant feeding difficulties. Intriguingly, along with this report, a high prevalence of EoE has recently been reported in children after repair of EA, but the basis of this association is currently unknown. It is also not known whether the EoE observed in these children with EA is similar to EoE in the general population in terms of the characteristic EoE molecular signature and response to treatment.

In this single-center, population-based, retrospective study, the authors aimed to 1) characterize the molecular and genetic basis (transcriptome) of EoE in patients with EA; 2) compare the EoE transcriptome in patients with EA with that of patients with EoE alone, and 3) to identify molecular and genetic abnormalities that could predispose patients with EA to the development of EoE. The Eosinophil Diagnostic Panel (EDP) was used to characterize the molecular signature of EoE, tackling these questions with the largest reported cohorts to date for these conditions occurring together.

In a cohort of 110 pediatric patients with EA, 20 patients (18%) were diagnosed with EoE, representing a 364-fold increased risk of EoE in patients with EA compared with the general pediatric population. The patient cohorts with EoE with and without EA were similar in terms of male dominance, Caucasian predisposition, high rate of atopy and food allergy, early age of onset, and overall molecular signatures. The authors also found that patients with concurrent EA and EoE reported significantly more symptoms of dysphagia, episodes of food bolus impaction, and strictures needing dilation than did patients with EoE without EA. A significant proportion (~25%) of EoE signature genes involved in epithelial barrier function and type 2–associated inflammatory responses were dysregulated in patients with EA at baseline when compared to healthy controls, potentially increasing the risk of children with EA developing EoE. The EoE molecular signatures were largely comparable in patients with EoE with and without EA, and their molecular responses to treatment were similar. Despite these commonalities, EoE in patients with EA had a significantly more severe clinical presentation than EoE without EA and also was associated with more severe dysregulation of two EoE signature genes. Therefore, early monitoring, diagnosis and treatment of EoE in children with repaired EA may potentially result in improved clinical outcomes and quality of life.

The Journal of Allergy and Clinical Immunology (JACI) is the official scientific journal of the AAAAI and is the most-cited journal in the field of allergy and clinical immunology.