Search Results (85)

Eosinophilic esophagitis (EoE) is an inflammatory disease of the esophagus, diagnosed based on clinical symptoms and elevated eosinophil counts in esophageal mucosal biopsies. While endoscopic biopsy remains the gold standard for diagnosing and monitoring this disease, the average child with EoE receives at minimum yearly endoscopy. There are risks and high costs associated with repeated procedures. Studies have been developed to evaluate less invasive methods for disease diagnosis and surveillance. We will be reviewing the current literature on noninvasive biomarkers in eosinophilic esophagitis, including specific levels of markers in blood, urine, stool, and saliva samples, as well as the esophageal string test. To date, there are no consensus statements recommending the use of noninvasive biomarkers in symptomatic patients or in asymptomatic patients. Only the esophageal string test has been formally accepted as a potential alternative to endoscopic surveillance by the American Society for Gastrointestinal Endoscopy Consensus Conference. Further studies need to be conducted to validate the use of biomarkers in diagnosing and monitoring this disease. Full article

Background: Spinal muscular atrophy type 1 (SMA1) is a severe neuromuscular disorder characterized by progressive muscle weakness and atrophy, including the muscles of the oral cavity and esophagus. Eosinophilic esophagitis (EoE), a chronic, allergic disease, presents with eosinophilic infiltration of the esophagus, leading to esophageal dysmotility. Feeding difficulties may occur in both conditions. So far, the coexistence of EoE and SMA1 has not been described; we present the first such case. Case presentation: The patient was a girl with SMA1 diagnosed shortly after birth, treated with nusinersen and onasemnogene abeparvovec, and fed a standard industrial diet through a gastrostomy. In her second year of life, she developed increasing symptoms: distress during feeding, regurgitation, vomiting, and weight loss. She was treated with proton pump inhibitors without clinical improvement. Gastroscopy was performed, revealing superficial epithelial damage with bleeding in the proximal esophagus. Histopathology showed chronic inflammation with up to 150 eosinophils per high-power field, microabscesses, spongiosis, and basal layer hypertrophy. The girl was diagnosed with EoE. Her diet was switched from a standard industrial formula to an amino acid-based formula, which led to marked clinical improvement, the resolution of symptoms, and appropriate weight gain. Conclusions: This case report highlights the challenges of diagnosing EoE in SMA1 patients and emphasizes the need for multidisciplinary approaches and further investigation of allergic manifestations in SMA1 patients. Full article

Background: Autism spectrum disorder (ASD) is associated with social-communication challenges that can hinder timely diagnosis and treatment during acute medical events (AMEs). The purpose of this report is to review the literature on medical comorbidities and AMEs in adults with profound ASD and highlight how healthcare teams can better understand atypical presentations of acute pain and discomfort in adults with profound ASD to reduce delayed diagnoses, delays in treatment, and ultimately improve health outcomes. Methods: The literature on medical comorbidities and AMEs in adults with profound ASD was reviewed using the following databases: PubMed, PsycINFO, and Google Scholar. The histories of three adults with profound ASD who experienced AMEs—specifically, appendicitis, nephrolithiasis, and eosinophilic esophagitis (EoE)—are described. The clinical cases were selected to illustrate the challenges inherent in diagnosing and treating AMEs in adults with profound ASD in the context of the review. Results: In Case 1, a 31-year-old male with autism was diagnosed with perforated appendicitis after his family noticed behavioral changes. In Case 2, a 36-year-old male with autism experienced intermittent pain from nephrolithiasis and communicated his discomfort through irritability and pointing. In Case 3, a 34-year-old male with autism exhibited atypical behavior due to pain from undiagnosed EoE, identified after years of untreated pain and multiple unsuccessful clinical procedures. Conclusions: This review and the illustrative cases demonstrate the significant role that communication barriers play in delayed medical diagnoses for adults with profound ASD during AMEs. Integrating caregiver insights and recognizing atypical pain expressions are essential for improving the accuracy and timeliness of diagnosis and treatment in this population. Full article

Background: Eosinophilic esophagitis is a chronic immune-mediated disease with increasing prevalence. In pediatric populations, it often coexists with IgE-mediated food sensitization. This dual diagnosis presents unique therapeutic challenges, including on the one hand both temporary and lifelong dietary restrictions, and on the other hand, therapeutic interventions with a potential impact on quality of life (QoL). Objectives: This study prospectively evaluated the prevalence of IgE-mediated food sensitization and allergy in children with EoE attending a tertiary center in Flanders, Belgium. Additionally, it prospectively documented dietary habits and restrictions in these children, with or without concomitant IgE-mediated food allergies, and assessed the impact of dietary management on quality of life compared to pharmacological treatment. Methods: We consecutively followed 30 children with biopsy-confirmed pediatric EoE (PedEoE) attending a tertiary referral center for at least 12 months. Patient demographics, allergy testing, dietary history, and treatment modalities were recorded. Symptom score and PedEoE QoL were assessed using validated Pediatric Eosinophilic Esophagitis Symptom Score (PEESS 2.0) and Pediatric Quality of Life Inventory (PedsQL 3.0) questionnaires. Statistical analysis was performed using the Mann–Whitney U test and Kruskal–Wallis test with Dunn’s test as a post hoc test. Results: Among 30 children with EoE (60% male, median age 8 years), 60 PedEoE QoL (PedsQL) and 39 symptom (PEESS) questionnaires were collected at one or more time points over a median follow-up of 14.5 months. IgE sensitization to common dietary triggers was observed in multiple patients, with varying clinical reactivity. Symptom scores tended to be higher in children without histological remission, though differences were not statistically significant (median PEESS 23.75 vs. 17.50, p = 0.1934). Grouped by degree of dietary restriction, QoL scores showed significant differences (child p = 0.0102; parent p = 0.0203), with children in the 1–2 food elimination group reporting better QoL compared to the 0 food elimination and >6 food elimination groups. No clear statistically significant differences were observed between the 1–2 food elimination group and the 3–4 or 5–6 food elimination groups. Conclusions: IgE sensitization is prevalent among pediatric EoE patients and has significant clinical implications for disease management. Treatment choice can influence not only disease control but also the QoL of both patients and their families. Full article

Eosinophilic Esophagitis (EoE) is a chronic, immune-mediated disorder that is characterized by symptoms of esophageal dysfunction and the presence of increased eosinophils in the esophageal mucosa. It is becoming increasingly prevalent among children and adults and its pathogenesis arises from the complex interaction of genetic predisposition and environmental triggers, both which contribute to esophageal inflammation. Current societal guidelines recommend the use of proton pump inhibitors, topical steroids, and dietary interventions such as elimination diets as first-line treatments, however, the recent approval of Dupliumab has provided an additional therapeutic avenue. There are a number of investigational biologic agents targeting other immune pathways which are making their way through the pipeline of pharmacologic options in treating this chronic disorder. Full article

Food-Induced Immediate Response of the Esophagus (FIRE) is a newly described syndrome observed in eosinophilic esophagitis (EoE) patients. It is defined by an immediate hypersensitivity reaction of the esophagus that occurs when specific foods and beverages interface with esophageal mucosa. The available data regarding this topic is scarce. Therefore, we aimed to review relevant publications in order to better characterize the main aspects of this syndrome and hypothesize about potential mechanisms underlying FIRE syndrome and possible future therapeutic approaches. We searched PubMed, Embase, and Web of Science databases for relevant articles published before February 1st, 2025. The results were narrowed down to four articles describing a total of 105 cases of FIRE syndrome. These patients had a distinct clinical presentation, characterized by retrosternal discomfort or pain, differentiating it from solid food dysphagia or pollen-food allergy syndrome (PFAS). Currently, diagnosis is based on clinical presentation, with no diagnostic tests or biomarkers available. Emerging evidence suggests that IgE-mediated hypersensitivity, mast cells, and neuroimmune interactions may play a central role in the pathogenesis of FIRE syndrome. The therapeutic approaches remain speculative, with trigger avoidance being the main option. This article brings to the forefront the need for continued research to address current knowledge gaps regarding FIRE syndrome, which is important for optimizing patient management. Full article

Eosinophilic esophagitis (EoE) is a chronic, immune-mediated disease characterized by esophageal eosinophilic infiltration, leading to symptoms such as dysphagia and food impaction. Endoscopy is central to both diagnosis and management, allowing for the direct visualization of characteristic features, biopsy collection, and therapeutic interventions. Despite its diagnostic value, up to one-third of patients may present with a normal-appearing esophagus, highlighting the importance of standardized scoring systems and a systematic biopsy approach. This review explores the evolving role of endoscopy in EoE, from traditional diagnostic methods to emerging technologies such as EndoFlip™ for assessing esophageal distensibility, transnasal endoscopy for non-sedated monitoring, and novel dilation techniques for fibrostenotic disease. Additionally, non-invasive biomarkers and minimally invasive tools are reshaping disease monitoring. By integrating endoscopic, histologic, and molecular approaches, future advancements may enhance diagnostic accuracy and optimize personalized treatment strategies for EoE. Full article

Esophageal fibrotic remodeling is a major complication of chronic inflammation in eosinophilic esophagitis (EoE) and represents one of the main determinants of symptoms in adult patients with EoE, with a remarkable impact on patients’ quality of life and the healthcare system. Esophageal fibrotic remodeling is diagnosed through upper gastrointestinal endoscopy, radiological studies, and a functional luminal imaging probe. However, diagnostic underestimation of esophageal strictures and suboptimal adherence to EoE guidelines still represent limitations of current clinical practice. Combined with medical therapy and/or elimination diets, endoscopic dilation remains the cornerstone treatment for esophageal strictures and rings, offering a safe and effective option for managing obstructive symptoms. Different modalities are available for esophageal endoscopic dilation of EoE, including mechanical and balloon dilators. Mechanical dilators provide tactile feedback during the procedure and exert longitudinal and radial forces. In contrast, balloon dilators apply a purely radial force and enable direct visualization of the esophageal mucosa during the procedure. Both mechanical and balloon dilators are safe and effective, with no single modality demonstrating clear superiority. Consequently, the choice of dilation technique is guided by stricture characteristics, the expertise of the endoscopist, and considerations related to the financial and environmental sustainability of the devices. This review aims to summarize the most relevant evidence on the endoscopic evaluation and dilation of fibrostenotic complications in EoE, also providing practical guidance for clinicians to optimize the endoscopic management of these patients. Full article

Background/Objectives: In recent years, there has been an increase in the prevalence of eosinophilic esophagitis (EoE), in which dysphagia is one of the main symptoms. To date, there are few data on the prevalence of EoE in pediatric patients with dysphagia. The aim of this study was to determine the causes of dysphagia in children in our region. The second aim of this study was to estimate the prevalence of EoE in children with swallowing difficulties and to see if there were differences in the characteristics of dysphagia reported by children with EoE compared to children with non-EoE-related dysphagia. Methods: The 6-year retrospective analysis included patients with dysphagia who were referred to our department. Children with dysphagia were further divided into two groups: group I consisted of children with dysphagia due to EoE, while group II consisted of children with dysphagia due to other causes (non-EoE). Results: One hundred and forty-six children between the ages 0 and 17 were enrolled into the study, including thirty-seven in group I and one hundred and nine in group II. The most common causes of dysphagia were gastrointestinal diseases, followed by neurological/psychiatric disorders. The prevalence of EoE was 25.34% in the whole study group and 41.11% considering only gastrointestinal causes of dysphagia. Children in group I were more likely to have coexisting asthma, allergic rhinitis and food allergy. There was statistically significance in higher blood eosinophil count in EoE individuals. In a multivariate binominal logistic regression model, only eosinophilia and coexisting food allergy were associated with an increased risk of EoE in patients with dysphagia. Conclusions: In our study, the most common cause of dysphagia was gastroenterological diseases, especially EoE. Patients with dysphagia, comorbid allergy and peripheral blood eosinophilia should be suspected for having EoE and referred for endoscopy. Full article

Pediatric gastroenterology is entering a pivotal phase marked by significant challenges and emerging opportunities in treating conditions like celiac disease (CeD), eosinophilic esophagitis (EoE), inflammatory bowel disease (IBD), and autoimmune hepatitis (AIH) pose significant clinical hurdles, but new therapeutic avenues are emerging. Advances in precision medicine, particularly proteomics, are reshaping care by tailoring treatments to individual patient characteristics. For CeD, therapies like gluten-degrading enzymes (latiglutenase, Kuma030) and zonulin inhibitors (larazotide acetate) show promise, though clinical outcomes are inconsistent. Immunotherapy and microbiota modulation, including probiotics and fecal microbiota transplantation (FMT), are also under exploration, with potential benefits in symptom management. Transglutaminase 2 inhibitors like ZED-1227 could help prevent gluten-induced damage. Monoclonal antibodies targeting immune pathways, such as AMG 714 and larazotide acetate, require further validation in pediatric populations. In EoE, biologics like dupilumab, cendakimab, dectrekumab (IL-13 inhibitors), and mepolizumab, reslizumab, and benralizumab (IL-5/IL-5R inhibitors) show varying efficacy, while thymic stromal lymphopoietin (TSLP) inhibitors like tezepelumab are also being investigated. These therapies require more pediatric-specific research to optimize their use. For IBD, biologics like vedolizumab, ustekinumab, and risankizumab, as well as small molecules like tofacitinib, etrasimod, and upadacitinib, are emerging treatments. New medications for individuals with refractory or steroid-dependent AIH have been explored. Personalized therapy, integrating precision medicine, therapeutic drug monitoring, and lifestyle changes, is increasingly guiding pediatric IBD management. This narrative review explores recent breakthroughs in treating CeD, EoE, IBD, and AIH, with a focus on pediatric studies when available, and discusses the growing role of proteomics in advancing personalized gastroenterological care. Full article

Eosinophilic esophagitis (EoE) is a chronic disease which clinically presents with symptoms related to esophageal dysfunction, while pathologically it is characterized by eosinophilic infiltration of esophageal epithelium. Most patients with EoE present with food and/or inhalant allergy symptoms. The results of animal model studies and genetic studies, as well as the efficacy of elimination diets in managing the symptoms, suggest an atopic background of the disease. The aim of this study was to evaluate the prevalence of EoE in a group of patients with upper gastrointestinal symptoms and food and/or inhalant allergies and to assess the influence of drugs used in type I allergies on the results of endoscopic, histopathological, and immunohistochemical tests. Methods: This was a prospective observational study. Patients with inhalant/food allergies and upper esophageal symptoms constituted the study group while patients without allergies who were diagnosed with dyspepsia or irritable bowel syndrome constituted the control group. All study group subjects underwent allergy testing, including prick testing and blood tests. All participants underwent a gastroscopy with specimen collection. Esophageal specimens were stained for eotaxin-1 and desmoglein-1. Results: Based on histopathology results, eosinophilic esophagitis was found in 9 of the 73 patients from the study group. All patients with EoE presented with multimorbidity and were diagnosed with at least one allergic disease in addition to EoE. Positive staining for CCL-11 was found in 56 (78%) patients in the study group, including all patients with EoE while only 3 (17%) individuals from the control group showed positive staining. The presence of DSG-1 in esophageal specimens was detected in 6 (7%) subjects from the study group in contrast to 14 (78%) subjects from the control group. DSG-1 was not found in any of the specimens of patients diagnosed with EoE. Conclusions: EoE is a rare disease, usually accompanied by allergic multimorbidity. Positive staining for eotaxin-1 and negative staining for desmoglein-1 in patients with esophageal symptoms and allergies but who did not meet EoE diagnostic criteria could be indicative of subclinical course of the disease or a masking effect of corticosteroids. It is now vitally important for both researchers and practicing clinicians to recognize that eosinophilic esophagitis (EoE) is not a homogeneous disease but rather consists of multiple subtypes (phenotypes). The so-called “classic” form of EoE—defined by current diagnostic criteria as the presence of more than 15 eosinophils per high power field on histopathological examination—appears to represent only the tip of the iceberg. There is an urgent need for further research in order to refine endoscopic techniques, expand the scope of histopathological assessments, and identify novel biomarkers to better define the distinct phenotypes of eosinophilic esophagitis. Full article

The diagnosis and monitoring of eosinophilic esophagitis (EoE), a common pediatric pathology, typically involves invasive procedures such as an upper endoscopy with biopsies, imposing a significant burden on patients and healthcare systems. We aimed to assess miR-21-5p and miR-223-3p levels in pediatric EoE patients and evaluate their as potential non-invasive biomarkers of disease activity and response to treatments. We enrolled 13 children with EoE and 8 controls. Plasma and esophageal mucosa samples from patients were collected at diagnosis and after 8–10 weeks of therapy and compared with control samples. After microRNA(miRNA) extraction, the levels of miR-21-5p and miR-223-3p and their relevant target genes were analyzed. Bioinformatic analysis was used to identify the predicted target genes and pathways that are potentially relevant for disease pathophysiology. Plasma levels of miR-21-5p and miR-223-3p were significantly higher in EoE patients than in the controls, reflecting their levels in esophageal mucosa. The target genes of these miRNAs are involved in key signaling pathways (MAPK, Ras, and FoxO), relevant for EoE pathophysiology. Among these, STAT3 (Signal Transducer and Activator of Transcription 3) and PTEN (Phosphatase and Tensin Homolog), which are significantly downregulated in patient esophageal mucosa, are implicated in eosinophilic gastroenteropathies and autoimmune diseases. Following therapy (proton pump inhibitors and/or fluticasone propionate), plasma and tissue expression of both miRNAs significantly decreased and were no longer different from the controls. These microRNAs may serve as complementary non-invasive EoE markers and reduce the need for endoscopy/biopsies. Full article

Eosinophilic esophagitis (EoE) is a chronic inflammatory disease characterized by esophageal dysfunction and eosinophilic inflammation of the esophageal mucosa. In this study, we investigated the bacterial flora in saliva and esophageal mucus in patients with EoE and examined the relationship between EoE disease activity and mucosal cytokine expression, involving patients with active and inactive EoE (A-EoE and I-EoE, respectively). A-EoE was defined as a peak eosinophil count > 15/high-power field, according to the 2025 consensus guidelines. Saliva samples were collected from patients before the endoscopic examination. Brushing samples were collected from the distal esophagus of patients with EoE during endoscopic procedures. The degree of EoE inflammation was assessed using the EoE endoscopic reference score (EREFS). The samples were profiled using the Illumina MiSeq platform. The V3–V4 regions of the 16S rRNA gene (460 bp) were amplified using tailed PCR. Fifty-nine patients were enrolled, including eight with I-EoE, seventeen with A-EoE, and twenty-eight non-EoE controls. Major bacterial genera such as Streptococcus, Prevotella, Veillonella, and Haemophilus were detected in both the oral cavity and esophagus. Compared with the control group, the active EoE group had significantly more Prevotella spp. in the saliva and esophageal mucosa. Conversely, significantly fewer Neisseria spp. were found in the saliva and Streptococcus spp. in the esophageal mucosa of patients with active EoE. The EREFS of EoE and Streptococcus were inversely correlated. This study elucidated the characteristics of bacterial flora in the saliva and esophageal mucosa of patients with EoE. Full article

Background: Eosinophilic esophagitis (EoE) is a chronic disease defined by esophageal dysfunction and >15 eosinophils per high-power-field on biopsy. Despite its increased incidence across the United States, studies evaluating its incidence at any state level are lacking. Methods: Record review of pediatric patients (<18 years) newly diagnosed with EoE based on ICD coding seen at the main two pediatric gastroenterology centers in the state: Children’s Nebraska (1 January 2016–31 December 2022) and Boys Town National Research Hospital (1 January 2022–31 December 2022). Data included demographics, age, and zip codes. Descriptive analysis focused on Nebraska residents. Results: The average point incidence of EoE between 2016 and 2022 was 10.84/100,000 inhabitants based on data from Children’s Nebraska. Considering both centers, the point incidence in Nebraska for 2022 was 32.45/100,000 inhabitants. Caucasians were 3.7 times more likely to be affected and older at time of diagnosis (average 9.7 years) compared to African Americans (7.0), Hispanics (7.4), and Asians (4.4). Conclusions: This is the first study evaluating the incidence of EoE in a specific U.S.A state. Studies at the state level are important to direct policy and interventions aiming limit its burden in communities. Full article

Eosinophilic esophagitis (EoE) is a chronic, immune-mediated disorder of the esophagus with rising prevalence. Dupilumab (DUPI), a monoclonal antibody that targets the interleukin-4 receptor α, has shown promise as a treatment option. We conducted a systematic review and network meta-analysis of randomized controlled trials searching the PubMed/Medline database, the Cochrane Database of Systematic Reviews, the Cochrane Central Register of Controlled Trials (CENTRAL), and the medRxiv preprint server up to 31 July 2024, assessing DUPI’s efficacy and optimal dosing in the treatment of EoE. Finally, three randomized-controlled trials comprising 470 participants, including 102 children under 12 years of age, were included in the qualitative synthesis. Both high-exposure (HE-DUPI, 300 mg weekly) and low-exposure (LE-DUPI, 300 mg biweekly) regimens achieved significant histologic remission relative to placebo (OR = 26.88, 95% CI 11.98–60.29 for LE-DUPI; OR = 29.15, 95% CI 13.68–62.12 for HE-DUPI). Although overall adverse events were comparable between groups, HE-DUPI was associated with a notable increase in serious adverse events. These findings suggest that DUPI is effective in promoting histologic remission in EoE, with LE-DUPI emerging as a preferred option for balancing efficacy and safety. This study highlights the efficacy and safety profiles of different dosing regimens and pediatric groups. Further studies are warranted to explore long-term outcomes and identify patient subgroups that may derive the greatest benefit from DUPI therapy. Full article