Successful multidisciplinary management of vascular Ehlers-Danlos syndrome

Abstract

Vascular Ehlers-Danlos syndrome is a rare connective tissue disease with a high risk of severe complications. Because of these complications, the median life expectancy for patients with vascular Ehlers-Danlos syndrome is estimated at 48 years. However, the optimal management of these complications remains unclear. A 25-year-old man with abdominal pain was transported to our hospital by ambulance. He had undergone Hartmann's operation at 22 years of age for a first-time colonic perforation. At that time, a genetic test revealed germline variants in COL3A1, which encodes type III procollagen; therefore, the patient was diagnosed with vascular Ehlers-Danlos syndrome. When the patient presented to our hospital, we suspected another colonic perforation and thus performed an emergency operation. Open abdominal management, transcatheter arterial embolization, and negative-pressure wound therapy were performed as life-saving measures. Notably, these procedures should initially be avoided in patients with vascular Ehlers-Danlos syndrome because of tissue fragility. Open abdominal management, transcatheter arterial embolization, and negative-pressure wound therapy may be useful for patients with vascular Ehlers-Danlos syndrome who develop panperitonitis and massive intra-abdominal bleeding.

Keywords: Ehlers–Danlos syndrome; Enteric fistula; Floating stoma; Negative pressure wound therapy; Open abdominal management; Transcatheter arterial embolization.