Phenotypes and endotypes in eosinophilic esophagitis

Abstract

Eosinophilic esophagitis (EoE) shares many features with other atopic diseases such as asthma, including heterogeneity in its presentation, natural history, and response to treatment. Clinical and molecular evidence suggests that different eosinophilic esophagitis patient phenotypes and endotypes exist. Phenotypic variations in EoE include the age of onset, degree of atopic comorbidity, response to different forms of therapy, and disease severity, among others. Biomarkers that may provide insight into the mechanisms of EoE for defining endotypes include the presence or absence of systemic Th2 inflammation, genetic risk factors, and histologic findings.

Proceedings of the First Curing Coma Campaign NIH Symposium: Challenging the Future of Research for Coma and Disorders of Consciousness

“…The potential for endotypes to transform classification and treatment has been demonstrated in a number of domains, including cancer, asthma, and multiple sclerosis. Endotypes are a fundamental principle in personalized (precision) medicine because they may form the foundation for prognostic enrichment, in which participants are selected on the basis of the likelihood that they will experience a specific outcome, and for predictive enrichment, in which patients are selected on the basis of the likelihood that they will respond to an intervention [11][12][13][14][15][16][17][18][19][20].…”

Early Life Risk Factors in Pediatric EoE: Could We Prevent This Modern Disease?

“…However, a significant number of EoE patients do not present allergic diseases, suggesting a possible non-atopic phenotype (2). Interestingly, several reports have suggested that EoE may be more frequently associated with some non-allergic disorders, including connective tissue disorders (74), autoimmune diseases (coeliac disease) ( 8), and contradictorily inflammatory bowel diseases (IBD) (8,(75)(76)(77), that are increased in the last decades, especially in Western countries (8).…”

“…EoE is a chronic, antigen-mediated, inflammatory disease of the esophagus characterized by symptoms due to esophageal inflammation, dysmotility, and fibrosis (1,2). EoE occurs in children and adults, and symptoms are often non-specific and depending on the age of onset (1,2).…”

“…EoE is a chronic, antigen-mediated, inflammatory disease of the esophagus characterized by symptoms due to esophageal inflammation, dysmotility, and fibrosis (1,2). EoE occurs in children and adults, and symptoms are often non-specific and depending on the age of onset (1,2). While in toddlers and children EoE presents with inflammatory symptoms mimicking gastroesophageal reflux disease (GERD), in adolescents and adults EoE frequently appears with food impaction, dysphagia, odynophagia, or esophageal strictures, as a consequence of the ongoing fibrosis process (1,2).…”

“…EoE occurs in children and adults, and symptoms are often non-specific and depending on the age of onset (1,2). While in toddlers and children EoE presents with inflammatory symptoms mimicking gastroesophageal reflux disease (GERD), in adolescents and adults EoE frequently appears with food impaction, dysphagia, odynophagia, or esophageal strictures, as a consequence of the ongoing fibrosis process (1,2). EoE is a multifactorial disorder resulting from the combination of genetic predisposition, epithelial barrier dysfunction, environmental risk factors (Table 1), and allergen sensitization, leading to a T helper type 2 (Th2) atopic inflammation of the esophagus (2).…”