1556 IBD Mimicker: Vascular Ehlers-Danlos Presenting as Spontaneous Bowel Perforation

Abstract

INTRODUCTION: Many diseases can mimic the clinical presentation of inflammatory bowel disease (IBD). Careful history to establish an event timeline that includes symptom onset and evolution, physical exam, imaging, pathology, and endoscopy can help narrow the differential. Here, we present a case of spontaneous colonic perforation due to vascular Ehlers Danlos Syndrome (vEDS) that was initially treated as IBD. CASE DESCRIPTION/METHODS: A 35 year old male with past medical history of childhood retinoblastoma s/p resection and chronic constipation (unremarkable colonoscopy 3 years prior) presented to clinic for a second opinion on a recent diagnosis of IBD. He had been in his usual state of health until 6 months prior to consultation, when he developed abdominal distension, followed by diffuse abdominal pain and vomiting. CT identified a bowel transition point in the mid-abdomen with pneumoperitoneum, prompting emergent exploratory laparotomy, during which sigmoid colon perforation was identified. Notably, no diverticular disease was present near the perforation site and the operative report commented on significant friability and tearing of the mesentery and small bowel. He ultimately underwent sigmoidectomy, ileocecetomy, and colonic mucous fistula creation. A commercially available IBD panel test returned positive and the patient was treated as presumptive Crohn Disease with infliximab, as well as frequent prednisone tapers. Upon referral to our center, the surgical pathology was reviewed and acute findings consistent with perforation were noted; no chronic inflammatory changes were found on either colonic or small bowel samples. CT enterography was unremarkable with respect to the bowel; however, the study incidentally identified dissection of the right common iliac down to the proximal superficial femoral artery. The patient was referred to Clinical Genetics, with subsequent testing revealing a COL3A1 mutation, diagnostic for vEDS. DISCUSSION: A broad differential beyond IBD should be maintained in cases of spontaneous bowel perforation. Unexpected tissue fragility should raise the possibility of a connective tissue disorder, and genetic testing is indicated if the perforation originates from the sigmoid in particular, as this is one of the major vEDS diagnostic criteria. In gastroenterology practice, unnecessary endoscopic procedures should be avoided whenever possible, and in cases where surgery is required, experienced colorectal surgeons should be consulted.