Ehlers Danlos syndrome and gastrointestinal manifestations: a 20‐year experience at Mayo Clinic. Issue 11 (16th September 2015)

• Record Type: Journal Article
• Authors: Nelson, A. D.; Mouchli, M. A.; Valentin, N.; Deyle, D.; Pichurin, P.; Acosta, A.; Camilleri, M.
• Is Part Of: Neurogastroenterology & motility. Volume 27:Issue 11(2015:Nov.)
• Page Start: 1657
• Page End: 1666
• Publication Date: 2015-09-16
• Subjects: Gastrointestinal system -- Motility -- Periodicals; Gastrointestinal system -- Innervation -- Periodicals; 616.33
• DOI: 10.1111/nmo.12665
• Languages: English
• ISSNs: 1350-1925

Abstract

<abstract abstract-type="main" id="nmo12665-abs-0001"> <title>Abstract</title> <sec id="nmo12665-sec-0001" sec-type="section"> <title>Background</title> <p>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.</p> </sec> <sec id="nmo12665-sec-0002" sec-type="section"> <title>Methods</title> <p>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.</p> </sec> <sec id="nmo12665-sec-0003" sec-type="section"> <title>Key Results</title> <p>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%).</p> </sec> <sec id="nmo12665-sec-0004" sec-type="section"> <title>Conclusions & Inferences</title> <p>EDS HM and other subtypes should be considered in patients with chronic functional GI symptoms and abdominal vascular lesions.</p> </sec> </abstract>