Bowel perforation in type IV vascular Ehlers–Danlos syndrome. A systematic review

Abstract

Spontaneous gastrointestinal (GI) perforation is a well-known complication occurring in patients suffering from Type IV vascular Ehlers-Danlos syndrome (EDS IV). The aim of the present study was to review the current literature on spontaneous GI perforation in EDS IV and illustrate the surgical management and outcome when possible. A systematic review of all the published data on EDS IV patients with spontaneous GI perforation between January 2000 and December 2015 was conducted using three major databases PUBMED, EMBASE, and Cochrane Central Register of Controlled Trails. References of the selected articles were screened to avoid missing main articles. Twenty-seven published case reports and four retrospective studies, including 31 and 527 cases, respectively, matched the search criteria. A case from our institution was added. Mean age was 26 years (range 6-64 years). The most frequent site of perforation was the colon, particularly the sigmoid, followed by small bowel, upper rectum, and finally stomach. The majority of cases were initially managed with Hartmann's procedure. In recurrent perforations, total colectomy was performed. The reperforation rate was considerably higher in the "partial colectomy with anastomosis" group than in the Hartmann group. Colonic perforation is the most common spontaneous GI perforation in EDS IV patients. An unexpected fragility of the tissues should raise the possibility of a connective tissue disorder and prompt further investigation with eventual management of these high-risk patients with a multidisciplinary team approach in dedicated centres. In the emergency setting, a Hartmann procedure should be performed.

Adults with Loeys–Dietz syndrome and vascular Ehlers–Danlos syndrome: A cross‐sectional study of health burden perspectives

“…vEDS was first described in 1975 (Pope et al, ) and is characterized by easy bruising, thin translucent skin with visible vasculature, and characteristic facial appearance (Byers et al, ). Affected individuals are at risk for intestinal (colon) and peripartum uterine rupture (El Masri et al, ), and rupture of branch arteries might be preceded by aneurysm or dissection or might even occur spontaneously (Byers et al, ). Management of any vascular complication is difficult because the arterial tissue is thin and fragile (Byers et al, ; Pepin et al, ).…”

Management of colonic complications of type IV Ehlers–Danlos syndrome: a systematic review and evidence‐based management strategy

“… of 133 patients has also reported a high operative death rate (nine patients) and an increased risk of colonic perforation with type IV EDS. The authors also noted that reversal of Hartmann's procedure carries a high risk of perforation or anastomotic leakage, and El Masri has also cautioned specifically against reversal of Hartmann's due to a high risk of leak and further gastrointestinal complications . These findings, together with our own data, make it very difficult to justify restoration of colonic continuity under these circumstances and suggest that subtotal colectomy should be regarded as the definitive operation for these patients.…”

Intestinal Perforation in Children as an Important Differential Diagnosis of Vascular Ehlers-Danlos Syndrome

“…Among 149 patients whose demographics were reported, 79 patients were female and 70 patients were male. The most common site is the sigmoid colon, with 74 patients [6,8–40], but perforations of the colon other than sigmoid, small intestine, rectum, stomach, and esophagus have been reported [6,36,41,42]. Out of 154 patients with a reported survival outcome, 35 deaths were reported.…”