Ehlers Danlos syndrome and gastrointestinal manifestations: A 20-year experience at Mayo Clinic

A. D. Nelson, M. A. Mouchli, N. Valentin, David R Deyle, P. Pichurin, Andres Acosta, Michael Camilleri

Research output: Contribution to journalArticle

48 Scopus citations

Abstract

Background: Gastrointestinal (GI) manifestations are found in Ehlers Danlos syndrome (EDS) hypermobility subtype (HM). We aimed to assess associations between EDS HM and other EDS subtypes with GI manifestations. Methods: We reviewed medical records of EDS patients evaluated at Mayo Clinic's Medical Genetics Clinic 1994-2013. We extracted information regarding EDS subtypes, GI manifestations, and treatments. Key Results: We identified 687 patients; 378 (56%) had associated GI manifestations (female 86.8%, diagnosis mean age 29.6 years). Of the patients identified, 58.9% (43/73) had EDS classic, 57.5% (271/471) EDS HM, 47.3% (27/57) EDS vascular subtypes. In addition, 86 patients had EDS that could not be classified in any of those three subtypes. Commonest GI symptoms were: abdominal pain (56.1%), nausea (42.3%), constipation (38.6%), heartburn (37.6%), and irritable bowel syndrome-like symptoms (27.5%). Many GI symptoms were commoner in EDS HM than the other subtypes together. Among 37.8% of the 378 patients who underwent esophagogastroduodenoscopy, the commonest abnormalities were gastritis, hiatal hernia and reflux esophagitis. Abnormal gastric emptying was observed in 22.3% (17/76): 11.8% delayed and 10.5% accelerated. Colonic transit was abnormal in 28.3% (13/46): 19.6% delayed and 8.7% accelerated. Rectal evacuation disorder was confirmed in 18/30 patients who underwent anorectal manometry. Angiography showed aneurysms in abdominal vessels in EDS vascular type. Proton pump inhibitors (38%) and drugs for constipation (23%) were the most commonly used medications. A minority underwent colectomy (2.9%) or small bowel surgery (4%). Conclusions & Inferences: EDS HM and other subtypes should be considered in patients with chronic functional GI symptoms and abdominal vascular lesions.

Original languageEnglish (US)
Pages (from-to)1657-1666
Number of pages10
JournalNeurogastroenterology and Motility
Volume27
Issue number11
DOIs
StatePublished - Nov 1 2015

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Keywords

  • Constipation
  • Heartburn
  • Hypermobility
  • Vascular

ASJC Scopus subject areas

  • Endocrine and Autonomic Systems
  • Gastroenterology
  • Physiology

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