Immunogenetic, Molecular and Microbiotic Determinants of Eosinophilic Esophagitis and Clinical Practice—A New Perspective of an Old Disease

Abstract

Eosinophilic oesophagitis (EoE) is a chronic, allergic disease associated with a T-lymphocyte response inducing esophageal eosinophilic infiltration in the esophagus. Inflammation and tissue fibrosis are responsible for the main clinical symptoms such as food impaction and dysphagia. The etiopathogenesis is multifactorial in which genetic and environmental factors coexist. The most common trigger is a non-IgE-mediated food allergy to milk, wheat, egg, soybean, nuts, fish, and seafood. The second factor we focus on is the contribution of genetic variation to the risk of EoE, describing the expression profile of selected genes associated with eosinophilic oesophagitis. We raise the topic of treatment, aiming to eliminate inflammation through an elimination diet and/or use of pharmacologic therapy with the use of proton pump inhibitors or steroids and endoscopic procedures to dilate the esophagus. We demonstrate that early diagnosis and effective treatment prevent the development of food impaction and decreased quality of life. The increasing presence of EoE requires bigger awareness among medical specialists concerning clinical features, the course of EoE, diagnostic tools, and management strategies.

Eosinophilic Esophagitis—What Do We Know So Far?

“…There is no evidence of the relationship between EoE and stimulants, such as alcohol or cigarettes, as only a few such studies have been conducted [ 31 , 40 , 41 ]. In one study, which compared cigarette smoking and alcohol consumption in people diagnosed with and without EoE, fewer subjects with EoE ever smoked cigarettes when compared to the non-EoE controls.…”

“…At least six biopsies should be obtained from the lower and upper esophagus (due to the variability of the location of esophageal eosinophilia) during esophagogastroduodenoscopy. These biopsies should be fixed in 10% buffered formaldehyde and stained with hematoxylin and eosin [ 41 ]. As mentioned earlier, a differential diagnosis is important, so it is worth taking biopsy specimens from the stomach and duodenum to exclude eosinophilic gastroenteritis [ 57 ].…”

“…Non-pharmacological treatments include diet modification and endoscopic esophageal procedures for the management of complications [ 34 ]. The main goal of treatment is to eliminate inflammation, the effect of which will be obtained in remission as a decrease of eosinophils to below 15 per 0.3 mm 2 and a normal endoscopic image of the esophagus [ 41 , 47 ]. An esophageal biopsy should be repeated 8–12 weeks after the start of treatment to assess its effect (see Figure 1 ) [ 47 ].…”

“…An esophageal biopsy should be repeated 8–12 weeks after the start of treatment to assess its effect (see Figure 1 ) [ 47 ]. The term “3D therapy” is often used in treatment to reflect the three most important aspects of treatment—drugs, diet, and dilatation [ 34 , 41 ]. Interestingly, a survey of adult and pediatric gastroenterologists in Europe and the United Arab Emirates showed that the awareness of current guidelines varies by country [ 67 ].…”

Eosinophilic esophagitis and esophageal microbiota

“…In addition, a decrease in hypoxia-inducible factor-1α also leads to decreased secretion of the antimicrobial peptide β-defensin by the epithelium ( Kelly et al., 2013 ), finally resulting in an increased bacterial load ( Angerami Almeida et al., 2022 ). Eosinophils that infiltrate the esophagus also secrete defensins that affect the local microbiome ( Kanikowska et al., 2021 ).…”