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

J. Pablo Abonia, Ting Wen, Emily M. Stucke, Tommie Grotjan, Molly S. Griffith, Katherine A. Kemme, Margaret H. Collins, Philip E. Putnam, James P. Franciosi, Karl F. Von Tiehl, Brad T. Tinkle, Keith A. Marsolo, Lisa J. Martin, Stephanie M. Ware, Marc E. Rothenberg

Research output: Contribution to journalArticle

94 Scopus citations


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; χ21 = 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.

Original languageEnglish (US)
Pages (from-to)378-386
Number of pages9
JournalJournal of Allergy and Clinical Immunology
Issue number2
StatePublished - Aug 1 2013
Externally publishedYes


  • Ehlers-Danlos syndrome
  • Eosinophilic esophagitis
  • Marfan syndrome
  • connective tissue disorders
  • eosinophil
  • eosinophilic gastrointestinal disease
  • hypermobility syndrome

ASJC Scopus subject areas

  • Immunology and Allergy
  • Immunology

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    Abonia, J. P., Wen, T., Stucke, E. M., Grotjan, T., Griffith, M. S., Kemme, K. A., Collins, M. H., Putnam, P. E., Franciosi, J. P., Von Tiehl, K. F., Tinkle, B. T., Marsolo, K. A., Martin, L. J., Ware, S. M., & Rothenberg, M. E. (2013). High prevalence of eosinophilic esophagitis in patients with inherited connective tissue disorders. Journal of Allergy and Clinical Immunology, 132(2), 378-386. https://doi.org/10.1016/j.jaci.2013.02.030