Program Nr: 362 from the 1999 ASHG Annual Meeting

H.P. Levy, W. Mayoral, K. Collier, T.L. Tio, C.A. Francomano.

Rupture of the GI tract is a known manifestation of vascular EDS (type IV), and diverticuli and hiatal hernia have been reported without specification of EDS subtype. However, the spectrum and frequency of GI complications in classical (types I and II) and hypermobile (type III) EDS have not been established.

We reviewed the charts of 51 EDS patients for GI findings. 38 patients had classical, and 13 had hypermobile EDS. Age range was 8 to 78 years. Sex ratio was biased, with F:M=41:10 (30:8 classical and 11:2 hypermobile). Gastroesophageal reflux (GERD) was suspected clinically in 26 of 45 patients [58%] for whom data was available (17 of 32 classical [53%] and 9 of 13 hypermobile [69%]). Irritable bowel syndrome (IBS), defined as chronic intermittent diarrhea and/or constipation, with or without abdominal cramps, was reported by 24 of 43 patients (56%) for whom data was available (18 of 30 classical [60%] and 6 of 13 hypermobile [46%]. Also, 4 patients (2 classical, 2 hypermobile) had endoscopic diagnoses of non-specific inflammatory bowel disease (IBD); thus 28 of 47 informative patients [60%] had IBS or IBD. Overall, 34 of 47 patients [72%] had any combination of GERD, IBS & IBD. If all missing data was considered negative, the overall prevalence would be 26 of 51 [51%] for GERD and 28 of 51 [55%] for IBS/IBD.

EDS patients may have chronic pain, leading to NSAID-induced gastritis mimicking GERD or narcotic-induced symptoms mimicking IBS. Alternatively, EDS may cause reduced lower esophageal sphincter tone, increased distensibility, and/or decreased GI motility, resulting in GERD and/or IBS. Autonomic dysfunction could cause both GERD and IBS. 10 patients had suspected or confirmed cardiovascular autonomic dysfunction; 9 also had GI complications.

We conclude that GERD and IBS are common complications of classical and hypermobile EDS, and should be sought and treated in these patients.