title: High prevalence of eosinophilic esophagitis in patients with inherited connective tissue disorders.
abstract: 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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Division of Allergy and Immunology, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, Ohio 45229, USA.
authors.forename: J Pablo
authors.initials: JP
authors.lastname: Abonia
authors.forename: Ting
authors.initials: T
authors.lastname: Wen
authors.forename: Emily M
authors.initials: EM
authors.lastname: Stucke
authors.forename: Tommie
authors.initials: T
authors.lastname: Grotjan
authors.forename: Molly S
authors.initials: MS
authors.lastname: Griffith
authors.forename: Katherine A
authors.initials: KA
authors.lastname: Kemme
authors.forename: Margaret H
authors.initials: MH
authors.lastname: Collins
authors.forename: Philip E
authors.initials: PE
authors.lastname: Putnam
authors.forename: James P
authors.initials: JP
authors.lastname: Franciosi
authors.forename: Karl F
authors.initials: KF
authors.lastname: von Tiehl
authors.forename: Brad T
authors.initials: BT
authors.lastname: Tinkle
authors.forename: Keith A
authors.initials: KA
authors.lastname: Marsolo
authors.forename: Lisa J
authors.initials: LJ
authors.lastname: Martin
authors.forename: Stephanie M
authors.initials: SM
authors.lastname: Ware
authors.forename: Marc E
authors.initials: ME
authors.lastname: Rothenberg
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D024102:Collagen Type VIII / Q000235:genetics; D003240:Connective Tissue Diseases / Q000150:complications / Q000453:epidemiology / Q000235:genetics; D004535:Ehlers-Danlos Syndrome / Q000150:complications* / Q000453:epidemiology / Q000235:genetics; D057765:Eosinophilic Esophagitis / Q000150:complications* / Q000453:epidemiology* / Q000235:genetics; D004947:Esophagus / Q000378:metabolism; D005260:Female; D006801:Humans; D008297:Male; D008382:Marfan Syndrome / Q000150:complications* / Q000453:epidemiology / Q000235:genetics; D015995:Prevalence; D012333:RNA, Messenger / Q000235:genetics / Q000378:metabolism
chemical_list: C443712:COL8A2 protein, human; D024102:Collagen Type VIII; D012333:RNA, Messenger
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