AB145. SOH23ABS_157. Recurring stercoral perforation in a patient with ehlers-danlos syndrome, type 4

Background: Stercoral perforation is a rare cause of colonic perforation, typically occurring in the setting of chronic constipation in elderly patients. Mortality rates are estimated at approximately 35%, but these can be improved with early detection and prompt surgical management. Certain genetic conditions may also predispose to stercoral perforation in younger patient groups.

Methods: We present the case of a 27-year-old female who presented with an acute abdomen. An emergency laparotomy and Hartmann’s procedure was performed for a stercoral perforation of the sigmoid colon. This patient was readmitted 10 days post-discharge with recurrence of acute abdominal pain and a repeat CT showed colitis of the descending colon. This was managed conservatively. This patient was readmitted acutely 6 weeks later for the third time. Laparotomy revealed a recurrent sigmoid stercoral perforation proximal to the sigmoid colostomy. A further sigmoid resection was performed with refashioning of the end colostomy.

Results: In view of this patient’s young age and atypical risk-factor profile for stercoral perforation, genetic testing was performed to assess for an underlying connective tissue disorder. A heterozygous pathogenic variant of COL3A1 was identified, consistent with a diagnosis of Vascular Ehlers-Danlos Syndrome (EDS type 4). This syndrome is associated with increased risk of vascular dissection or rupture, gastrointestinal perforation and uterine rupture.

Conclusions: Stercoral perforation is rare and is associated with a high mortality rate. Early diagnosis and emergency surgery is essential. An underlying connective tissue disorder such as Ehlers-Danlos Syndrome type 4 should be considered in younger patients presenting with recurring stercoral perforation.

Keywords: Constipation; faecaloma; faecal impaction; stercoral perforation; stercoral ulcers