Dataset Information

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; ?(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.

SUBMITTER: Abonia JP

PROVIDER: S-EPMC3807809 | biostudies-literature | 2013 Aug

REPOSITORIES: biostudies-literature

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Publications

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

Abonia J Pablo JP Wen Ting T Stucke Emily M EM Grotjan Tommie T Griffith Molly S MS Kemme Katherine A KA Collins Margaret H MH Putnam Philip E PE Franciosi James P JP von Tiehl Karl F KF Tinkle Brad T BT Marsolo Keith A KA Martin Lisa J LJ Ware Stephanie M SM Rothenberg Marc E ME

The Journal of allergy and clinical immunology 20130419 2

<h4>Background</h4>Eosinophilic esophagitis (EoE) is an emerging chronic inflammatory disease mediated by immune hypersensitization to multiple foods and strongly associated with atopy and esophageal remodeling.<h4>Objective</h4>We provide clinical and molecular evidence indicating a high prevalence of EoE in patients with inherited connective tissue disorders (CTDs).<h4>Methods</h4>We examined the rate of EoE among patients with CTDs and subsequently analyzed esophageal mRNA transcript profiles ...[more]

PMID: 23608731

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Project description:Background & aimsWe evaluated the efficacy and safety of high-dose swallowed fluticasone propionate (FP) and dose reduction in patients with eosinophilic esophagitis (EoE) and analyzed esophageal transcriptomes to identify mechanisms.MethodsWe conducted a randomized, multisite, double-blind, placebo-controlled trial of daily 1760 mcg FP in participants age 3-30 years with active EoE. Twenty-eight participants received FP, and 14 participants received placebo. After 3 months, participants given FP who were in complete remission (CR) received 880 mcg FP daily, and participants in the FP or placebo groups who were not in CR continued or started, respectively, 1760 mcg FP daily for 3 additional months. The primary end point was histologic evidence for CR. Secondary end points were partial remission (PR), symptoms, compliance, esophageal gene expression, esophageal eosinophil count, and the relationship between clinical features and FP responsiveness.ResultsAfter 3 months, 65% of subjects given FP and no subjects given placebo were in CR (P = .0001); 12% of those given FP and 8% of those given placebo were in PR. In the FP group, 73% of subjects remained in CR, and 20% were in PR after the daily dose was reduced by 50%. Extending FP therapy in FP-resistant participants did not induce remission. FP decreased heartburn severity (P = .041). Compliance, age, sex, atopic status, or anthropomorphic features were not associated with response to FP. Gene expression patterns in esophageal tissues of FP responders were similar to those of patients without EoE; there was evidence for heterogeneous steroid signaling in subjects who did not respond to FP and preliminary evidence for transcripts predictive of FP responsiveness.ConclusionsDaily administration of a high dose of FP induces histologic remission in 65%-77% of patients with EoE after 3 months. A 50% dose reduction remained effective in 73%-93% of patients who initially responded to FP. Nonresponders had evidence of steroid resistance; histologic and molecular markers may predict resistance. Clinicaltrials.gov number: NCT00426283.

Dataset Information

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

Background

Objective

Methods

Results

Conclusion

Publications

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

Similar Datasets

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