Esophageal Eosinophilia Common Among Relatives

Abstract Background & Aims Familial clustering of eosinophilic esophagitis (EoE) has been described, but biopsy-assessed prevalence of esophageal eosinophilia (EE) in first degree family members has never been reported. The aim was to determine the prevalence of esophageal eosinophilia (EE) in first degree adult relatives (FDRs) of EoE patients. Methods Index EoE patients diagnosed by esophageal eosinophilia (> 15 eos/hpf) and PPI (proton pump inhibitor) non-responsiveness were identified and family trees were constructed. Adult FDRs were invited to undergo upper endoscopy with esophageal biopsies and to complete reflux, dysphagia and allergy/atopy questionnaires. Questionnaire information was gathered only upon those who responded as per IRB purview. Records from other children and adult FDR's with prior EoE diagnoses were also obtained when permission was obtained. Simple and multivariable logistic regression models were used to evaluate the unadjusted and odds ratios (ORs) of EoE for demographic and clinical variables. Results A total of 239 FDRs from 37 index EoE patients were identified. 71/239 adult (>18 years) FDRs completed endoscopy and questionnaires and 18/71 FDRs had EE. An additional 17 FDRs were confirmed to have EE after external medical record retrieval resulting in a total of 35/239 (14.6%) FDRs with esophageal eosinophilia. Significantly more male FDRs had EE compared to female FDRs (p=0.027). PPI, dysphagia, GERD, asthma, and reflux symptoms predicted EE in FDRs. FDRs who had EE reported hayfever, allergic eye symptoms, and food allergy more frequently than those without EE (p=0.03, p=0.001, and p=0.02, respectively). Specifically, younger age, higher serum Eos, being male, and having food allergies were all associated with higher odds of EoE (p=0.0211, p=0.0031, p=0.0362, and p=0.0089 respectively). Conclusions The prevalence of esophageal eosinophilia is extremely high and male predominant in first- degree relatives of EoE patients. Symptoms of hayfever, allergic eye symptoms, and food allergy were predictors of EE in FDRs. Dysphagia did NOT predict esophageal eosinophilia. Family members of EoE patients are at risk for EE, particularly those who have atopic symptoms.