title: Ehlers Danlos syndrome and gastrointestinal manifestations: a 20-year experience at Mayo Clinic.
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.
  
  
  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
  EDS HM and other subtypes should be considered in patients with chronic functional GI symptoms and abdominal vascular lesions.
authors.affiliation: Clinical Enteric Neuroscience Translational and Epidemiological Research (CENTER) , Rochester, MN, USA.
authors.forename: A D
authors.initials: AD
authors.lastname: Nelson
authors.affiliation: Clinical Enteric Neuroscience Translational and Epidemiological Research (CENTER) , Rochester, MN, USA.
authors.forename: M A
authors.initials: MA
authors.lastname: Mouchli
authors.affiliation: Clinical Enteric Neuroscience Translational and Epidemiological Research (CENTER) , Rochester, MN, USA.
authors.forename: N
authors.initials: N
authors.lastname: Valentin
authors.affiliation: Division of Medical Genetics, Mayo Clinic, Rochester, MN, USA.
authors.forename: D
authors.initials: D
authors.lastname: Deyle
authors.affiliation: Division of Medical Genetics, Mayo Clinic, Rochester, MN, USA.
authors.forename: P
authors.initials: P
authors.lastname: Pichurin
authors.affiliation: Clinical Enteric Neuroscience Translational and Epidemiological Research (CENTER) , Rochester, MN, USA.
authors.forename: A
authors.initials: A
authors.lastname: Acosta
authors.affiliation: Clinical Enteric Neuroscience Translational and Epidemiological Research (CENTER) , Rochester, MN, USA.
authors.forename: M
authors.initials: M
authors.lastname: Camilleri
mesh_terms: D000328:Adult; D004535:Ehlers-Danlos Syndrome / Q000145:classification / Q000150:complications*; D005260:Female; D005767:Gastrointestinal Diseases / Q000453:epidemiology* / Q000209:etiology*; D006801:Humans; D008297:Male; D015995:Prevalence; D012189:Retrospective Studies
keywords: constipation; heartburn; hypermobility; vascular