7143 Gastrointestinal manifestations in patients with classical and hypermobile ehlers-danlos syndrome

• Published in: Gastrointestinal endoscopy 2000-04, Vol.51 (4), p.AB278-AB278
• Main Authors: Boonpongmanee, Somprak, Tio, Thian Lok, Zubarick, Richard S., Mayoral, William, Nwakwakwawa, vICTOR, lEVY, hOWWARD, Clare, fRANCOMANO
• Format: Article
• Language: English
• ISSN: 0016-5107; 1097-6779
• DOI: 10.1016/S0016-5107(00)14814-X

Ehlers-Danlos syndrome (EDS) is a heterogeneous group of inheritable connective tissue disorders. Gastrointestinal (GI) manifestations including giant epiphrenic diverticula, mega-esophagus, GI bleeding and spontaneous bowel perforation have been reported without specification of EDS type. There has been minimal systematic evaluation of GI symptomatology in patients with EDS, and no evaluation of GI symptomatology specifically in the subgroup with classical or hypermobile EDS. Aim: To prospectively evaluate GI symptoms of patients with classical or hypermobile EDS referred to the GI service at the National Institute of Health (NIH). Methods: Overall, 23 patients with classical or hypermobile EDS from NIH EDS protocol were evaluated by the GI service between July 1998 and December 1999. Endoscopic evaluation was performed in consenting patients. Ten patients underwent EGD, 7 underwent colonoscopy, and 3 underwent catheter ultrasound (CUS) during endoscopy.Wall thickness of both bowel and descending aorta was assessed by CUS. GI symtomatology are as follows: (see table.)Results: Of patients undergoing EGD, 3 had a hiatal hernia (30%), 1 had antral erosions, and 2 had esophageal inflammation. On colonoscopy, 3 (43%) were reported to have a redundant colon, 1 had colonic inflammation, and 1 had submucosal vascular inflammation. Average wall thickness at CUS (total thickness/ muscularis propria in mm) was as follows: esophagus (2.9/2.2), gastric antrum (3.6), duodenum (2.1/1.1), descending colon (2.9/1.5), sigmoid (2.7/1.2), rectum (2.9/1.0). The average size of the descending aorta in the thorax at CUS was 18mm (largest one was 24 mm), and its average size in the abdomen was 12.8mm. Conclusion: Gastrointestinal symptoms are common in patients with classical or hypermobile EDS. The most common symptoms are probably related to GERD or IBS. Mucosal findings occur in this symptomatic population but are not frequent. Hiatal hernias, redundant colon, and thickening of the intestinal wall (especially the muscularis propria) may occur. This study is ongoing.