Phenotypes and Endotypes in Eosinophilic Esophagitis

Objective: To improve understanding of the heterogeneous presentation of eosinophilic esophagitis (EoE), and its different potential phenotypes and endotypes.

Data Sources: We reviewed studies addressing EoE genetics, risks, natural history, treatment, phenotype, or endotype to assess data relating to differences in the presentation of EoE in children and adults. This review was restricted to articles in the English language.

Study Selections: Data source abstracts, pertinent articles, and book chapters meeting the objectives were critically reviewed.

Results: Data to support differing phenotypes and endotypes in EoE are emerging, but findings are based on multiple studies and therefore sometimes incomparable. Like other atopic disorders EoE is a complex disease with diverse clinical presentations (phenotypes) based on response to therapy, natural history, and association with atopic comorbidities. Different pathogenetic mechanisms (endotypes) may drive the multiple phenotypes. T Helper type 2 inflammation, epithelial barrier defects, enhanced fibrosis, and association with rare monogenetic diseases are the most described endotypes in EoE.

Conclusion: Eosinophilic esophagitis is an atopic disorder that is increasing in prevalence and can be difficult to treat. Better understanding of phenotypes and endotypes in EoE may enable future care to be individualized more effectively, resulting in shorter time to remission and fewer endoscopies.