Conservative management of small bowel perforation in Ehlers-Danlos syndrome type IV

Abstract

Ehlers-Danlos syndrome (EDS) is a group of inherited connective tissue disorders caused by collagen synthesis defects. EDS type IV, or vascular EDS, is caused by loss-of-function mutations in the type III pro-collagen gene (COL3A1). Common complications of EDS type IV include gastrointestinal bleeding and bowel perforations, posing diagnostic and therapeutic dilemmas for both surgeons and gastroenterologists. Here, we describe a complicated case of EDS type IV in a 35-year-old caucasian female who presented with overt gastrointestinal bleeding. The patient had a prior history of spontaneous colonic perforation, and an uncomplicated upper endoscopy was performed. A careful ileoscopy was terminated early due to tachycardia and severe abdominal pain, and a subsequent computed tomography scan confirmed the diagnosis of ileal perforation. The patient was managed conservatively, and demonstrated daily improvement. At the time of hospital discharge, no further episodes of gastrointestinal blood loss had occurred. This case highlights the benefit of conservative management for EDS patients with gastrointestinal hemorrhage. It is recommended that surgical treatment should be reserved for patients who fail conservative treatment or in cases of hemodynamic instability. Finally, this case demonstrates the necessity for a higher threshold of operative or endoscopic interventions in EDS type IV patients.

Keywords: Type-IV Ehlers-Danlos syndrome, Gastrointestinal hemorrhage, Bowel perforation, Conservative management, Non-operative, COL3A1, Connective tissue disorder

Core tip: Gastrointestinal bleeding and bowel perforations are known complications of Ehlers-Danlos syndrome (EDS) type IV Tissue fragility and hemorrhage tendency pose diagnostic as well as therapeutic dilemmas for both surgeons and gastroenterologists. We performed an upper gastrointestinal endoscopy and ileoscopy in a bleeding patient with history of EDS type IV. The upper endoscopy procedure was uneventful with minimal air used for luminal distension. A small bowel perforation was found. This case highlights the tissue fragility and serosal tears that can occur upon slight handling. Conservative management proved the best course of action.