Eosinophilic Gastrointestinal Disorders: the experience of the Pediatric Reference Center of the University of Pavia

ABSTRACT Background and Aims: Primary eosinophilic gastrointestinal disorders (EGIDs) represent a heterogenous group of disorders characterized by eosinophilic inflammation, selectively affecting different segments of the gastrointestinal tract. To date, few studies have been realized in Italy to assess the epidemiological and clinical features of children and adolescents with EGIDs. Materials and methods: We performed a retrospective cross-sectional study of pediatric patients followed at the Center for Pediatric Eosinophilic gastrointestinal Disorders (CPED) in Pavia. We assessed demographic, clinical, endoscopic, and histological data at baseline and during five years of follow-up. Results: We enrolled 60 patients with a diagnosis of EGIDs, particularly 38 (63%) patients had eosinophilic esophagitis (EoE) and 22 (37%) non-esophageal EGIDs (9% eosinophilic gastroenteritis [EoGE], 23% eosinophilic enteritis [EoEn], and 68% eosinophilic colitis [EoC]). EGIDs mainly affect males (73.3%) and Caucasian (83%) children. More than half (58%) of patients with EGIDs had a strong allergic diathesis that significantly prevailed in children with EoE compared to non-esophageal EGIDs (60.5% vs. 54.5% p 0.02). The most common atopic comorbidity was allergic rhinitis which prevailed almost equally in both groups while asthma was significantly prevalent in children with EoE ( p 0.04). On the other hand, a consistent group of patients showed a non-atopic phenotype. Congenital malformations and genetic diseases were the most common, and esophageal atresia was associated with EoE. Autism spectrum disorders were significantly associated with patients with non-esophageal EGIDs (p 0.04). Clinical presentation differed across each disorder. EoE patients showed esophageal dysfunction symptoms (dysphagia, p 0.02; food impaction, p 0.04; GERD-like symptoms, p 0.004), while patients with non-esophageal EGIDs mainly presented with diarrhea (p < 0.0001) and abdominal pain. The mean BMI value of children with EGIDs was higher than that of healthy controls (p 0.05). Children with EGIDs were not at higher risk to develop vitamin D deficiency, than healthy controls. Most of the EGIDs patients (40%) had normal endoscopic features. In children with EoE , peak tissue eosinophil counts significantly correlated with the severity of total EREFS score. As initial management, most EoE patients were treated with proton pump inhibitors (PPIs) alone and in combination with swallowed steroids. Therapy for the initial management of non-esophageal EGIDs depended on the site of GI inflammation. While the same choice for EoE was mainly prescribed in patients with EoGE, PPIs alone was commonly used in patients with EoEn, and oral steroids were administered in most children with EoC. During the follow-up, none of the EoE patients developed esophageal strictures and required esophageal dilatations, and 43% was in remission at one year of follow-up. A long-term follow-up was achieved only in a few patients with a less recent diagnosis of non-esophageal EGIDs. 36% and 40% of children with EoE were in remission at the 3 year and 5 year follow ups, respectively. Conclusion: We examined the epidemiological, demographic, clinical, and pathological features of children and adolescents with EGIDs followed at the CPED in Pavia. Further studies are required to confirm phenotypes and histological or serological biomarkers to provide a novel endotype classification, based on different cytokine or genetic signatures.