High prevalence of eosinophilic esophagitis in patients with inherited connective tissue disorders
Open accessAbstract
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.
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MCAS has been reported with congenital connective tissue disorders such as hypermobility EDS and dysautonomia such as POTS or autonomic failure, for which an autoimmune association has been suggested.
“MCAS has been reported in conjunction with congenital connective tissue disorders (such as hypermobility EDS) and dysautonomia (as in patients with POTS or autonomic failure),17,52,53 for which an association with autoimmunity has been suggested.”
From Mast cell activation syndrome: Current understanding and research needs (2024) · cites this paper as [53]
Clinical research described comorbidities in hEDS/HSD patients: functional gastrointestinal and eosinophilic disorders, increased prevalence of asthma, and chronic pain syndromes.
“Over the past few years, clinical research described the presence of comorbidities in hEDS/HSD patients, such as functional gastrointestinal and eosinophilic disorders [140,141], increased prevalence of asthma [142], and chronic pain syndromes, i.e., chronic fatigue, fibromyalgia, irritable bowel disease, and inflammatory joints conditions [111,143], though specific underlying causes and”
From Cellular and Molecular Mechanisms in the Pathogenesis of Classical, Vascular, and Hypermobile Ehlers‒Danlos Syndromes (2019) · cites this paper as [140]
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- Authors
- 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.
- Affiliations
- Cincinnati Children's Hospital Medical Center (US)
- Nemours Children's Clinic (US)
- Corresponding author
- Rothenberg, Marc E.
- ORCID
- Venue
- Journal of Allergy and Clinical Immunology
- Publisher
- Elsevier BV
- Published
- 2013-08
- Volume
- 132
- Issue
- 2
- Pages
- 378-386
- ISSN
- 0091-6749 (ISSN-L)
- PMC
- PMC3807809
- OpenAlex
- W1997349413
- Cited by
- 195
- References
- 61
- Citations by year
- 2026: 8 · 2025: 10 · 2024: 21 · 2023: 11 · 2022: 10 · 2021: 8 · 2020: 15 · 2019: 15 · 2018: 24 · 2017: 22 · 2016: 14 · 2015: 13 · 2014: 18 · 2013: 3 · 2012: 1
- FWCI
- 15.77
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Journal of Allergy and Clinical Immunology (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- Funders
- Buckeye Career Center Foundation
- National Institutes of Health (P30 DK078392, U19 AI070235, AI045898, R01AI083450)
- Food Allergy and Anaphylaxis Network
- Campaign Urging Research for Eosinophilic Disease
- First Aircraft Institute
- Food Allergy Initiative
- Topics
- Health Sciences › Medicine › Surgery › Eosinophilic Esophagitis
- Health Sciences › Medicine › Immunology and Allergy › Food Allergy and Anaphylaxis Research
- Health Sciences › Medicine › Physiology › Asthma and respiratory diseases
- Keywords
- eosinophilic esophagitis, hereditary connective tissue disorders, prevalence, COL8A2, atopy, esophageal remodeling, risk stratification
- MeSH terms
- Adolescent, Child, Child, Preschool, Connective Tissue Diseases, Ehlers-Danlos Syndrome, Esophagus, Female, Humans, Male, Marfan Syndrome, RNA, Messenger, Prevalence, Collagen Type VIII, Eosinophilic Esophagitis
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