High prevalence of eosinophilic esophagitis in patients with inherited connective tissue disorders.

Journal Article (Journal Article)

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.

Full Text

Duke Authors

Cited Authors

  • Abonia, JP; Wen, T; Stucke, EM; Grotjan, T; Griffith, MS; Kemme, KA; Collins, MH; Putnam, PE; Franciosi, JP; von Tiehl, KF; Tinkle, BT; Marsolo, KA; Martin, LJ; Ware, SM; Rothenberg, ME

Published Date

  • August 2013

Published In

Volume / Issue

  • 132 / 2

Start / End Page

  • 378 - 386

PubMed ID

  • 23608731

Pubmed Central ID

  • PMC3807809

Electronic International Standard Serial Number (EISSN)

  • 1097-6825

Digital Object Identifier (DOI)

  • 10.1016/j.jaci.2013.02.030


  • eng

Conference Location

  • United States