Background: Eosinophilic esophagitis (EoE) is an emerging chronic inflammatory disease mediated by immune hypersensitization to multiple foods and strongly associated with atopy and esophageal remodeling.
Objective: We provide clinical and molecular evidence indicating a high prevalence of EoE in patients with inherited connective tissue disorders (CTDs).
Methods: We examined the rate of EoE among patients with CTDs and subsequently analyzed esophageal mRNA transcript profiles in patients with EoE with or without CTD features.
Results: We report a cohort of 42 patients with EoE with a CTD-like syndrome, representing 0.8% of patients with CTDs and 1.3% of patients with EoE within our hospital-wide electronic medical record database and our EoE research registry, respectively. An 8-fold risk of EoE in patients with CTDs (relative risk, 8.1; 95% confidence limit, 5.1-12.9; χ(2)1 = 112.0; P < 10(-3)) was present compared with the general population. Esophageal transcript profiling identified a distinct subset of genes, including COL8A2, in patients with EoE and CTDs.
Conclusion: There is a remarkable association of EoE with CTDs and evidence for a differential expression of genes involved in connective tissue repair in this cohort. Thus, we propose stratification of patients with EoE and CTDs into a subset referred to as EoE-CTD.
Keywords: BMI; Body mass index; CCHMC; CTD; Cincinnati Children's Hospital Medical Center; Connective tissue disorder; EDS; EGID; EMR; Ehlers-Danlos syndrome; Electronic medical record; EoE; Eosinophilic esophagitis; Eosinophilic gastrointestinal disorder; FBN1; Fibrillin-1 gene; GERD; Gastroesophageal reflux disease; Informatics for Integrating Biology & the Bedside; JHS; Joint hypermobility syndrome; LDS; Loeys-Dietz syndrome; MFS; Marfan syndrome; PPI; Proton pump inhibitor; connective tissue disorders; eosinophil; eosinophilic gastrointestinal disease; hypermobility syndrome; i2b2.
Copyright © 2013 American Academy of Allergy, Asthma & Immunology. Published by Mosby, Inc. All rights reserved.