Su1098 Colonoscopies Are Not Safe in Patients With Type 4 Ehlers-Danlos Syndrome but Appear to Be Safe With Minimally Increased Rate of Perforation in Patients With Other Types of Ehlers-Danlos or Marfan Syndrome

Abstract

Marfan syndrome and Ehlers-Danlos syndrome (EDS) are two of the most common multisystemic heritable connective tissue disorders. Types 1 and 2 EDS have predominant skin manifestations. Type 3 EDS patients have significant symptoms of joint hypermobility with fewer skin manifestations. Type 4 EDS, accounting for only 3-6% of all EDS, is considered the most serious form with risk of vascular, bowel, or uterine rupture. Spontaneous bowel perforation has been previously reported in the literature with Type 4 EDS. The safety of colonoscopy in patients with connective tissue disorders has been questioned, but currently no data exist. The purpose of this study is to assess the prevalence of perforation occurring spontaneously and following instrumentation in these patients. Methods: Patients were contacted through electronic mailing lists by local and national Marfan syndrome and EDS societies. Surveys were online, and de-identified results were analyzed with Qualtrics and SASS. Results: A total of 3076 patients with connective tissue disorders participated. Of these patients, 2079 had EDS and 749 had Marfan syndrome. Colonoscopy or sigmoidoscopy was done in 1060 (51%) of EDS and 289 (39%) of Marfan syndrome patients. Following colonoscopy or sigmoidoscopy, perforations occurred in none of the patients with Marfan syndrome, 1/190 patients with Type 1 or 2 EDS (0.53%), 4/879 patients with Type 3 EDS (0.46%), 4/41 patients with Type 4 EDS (9.7%), and 1/121 other type EDS (0.83%). Spontaneous perforations occurred in 1.9% of Marfan patients, 4.0% Type 1 or 2 EDS patients, 3.9% Type 3 EDS patients, 22.2% Type 4 EDS patients, and 7.18% of other type EDS patients. Of patients with colonoscopic perforations, 70% underwent barium enemas at some time.Discussion: To our knowledge, this is the first study to examine the prevalence of viscous perforation occurring spontaneously and following colonoscopy, sigmoidoscopy, or barium enema in patients with Marfan syndrome or EDS. The risk of perforation in patients undergoing colonoscopy in the general population has been reported as 0.05-0.63% and 0.020.24% with double contrast barium enema. Although many of the patients with perforation also underwent barium enemas, it is unknown whether barium enemas caused any perforation or were performed at an unrelated time. Our data show that patients with Marfan syndrome and EDS Types 1, 2, and 3 have rates of perforation similar to the general population. Therefore, it appears that colonoscopy and sigmoidoscopy are likely safe in these patients. In contrast, patients with Type 4 EDS have high frequencies of viscous perforation spontaneously and following instrumentation. This high rate of colonic perforation in patients with EDS Type 4 must be discussed at the time of consent for colonoscopy or flexible sigmoidoscopy, and should impact the type of CRC screening selected.