Natural history of gastrointestinal manifestations in vascular Ehlers–Danlos syndrome: A 17‐year retrospective review

Abstract

Background and Aim Vascular Ehlers–Danlos syndrome (vEDS) is a rare connective tissue disorder due to heterozygous mutations in the COL3A1 gene with a dominant negative effect. Spontaneous bowel perforation and intra‐abdominal organ rupture are common complications of vEDS. Other gastrointestinal (GI) manifestations may occur but have not been extensively characterized. We herein describe the natural history of GI events and surgery‐related complications in patients with vEDS. Methods A retrospective review of GI events in a large cohort of molecularly proven vEDS patients was conducted, after exclusion of mild forms of the disease. Results Of 133 patients, 41% had a history of GI manifestations with 112 events, mean 2.0 ± 1.3 events per patient. There was an earlier occurrence of GI events in men (P 0.008). Cumulative incidence was 58% for all patients, higher in men and in patients with splice‐site variants. Recurrence of GI events was reported in more than 50% of patients. Colonic perforation was the first digestive event for 47% of patients. Of 85 GI surgeries, 37 (43%) were complicated with 43 events. Nine deaths were reported in this population. Conclusions Vascular Ehlers–Danlos syndrome is characterized not only by bowel perforation but also by a wide variety of GI complications that occur in close to half (41%) of patients. The pattern of GI fragility seems more severe in males and splice‐site variants. Complications of GI surgery are common and are related with tissue fragility/friability.

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

“…However, one recent case series by Frank et al . 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 .…”

Segmental Absence of Intestinal Musculature in a Child with Type IV Ehlers–Danlos Syndrome

“…A bowel perforation is a known complication in patients with vEDS, but usually oc curs later in life with an average age of 21 years [13,14]. Colonic perforation, more speci ically the sigmoid colon, is the most common place for spontaneous rupture of the gastro intestinal tract [13][14][15][16][17]. A review of 220 patients with confirmed vEDS showed that 40% had a bowel perforation, most of which consisted of perforation in the sigmoid colon [14 One case report of a six-year-old boy indicated that he had two bowel perforations-on Due to intraoperative findings of the friable mesentery and fragile colonic tissue, there was concern about a connective tissue disorder.…”

“…A bowel perforation is a known complication in patients with vEDS, but usually occurs later in life with an average age of 21 years [13,14]. Colonic perforation, more specifically the sigmoid colon, is the most common place for spontaneous rupture of the gastrointestinal tract [13][14][15][16][17]. A review of 220 patients with confirmed vEDS showed that 40% had a bowel perforation, most of which consisted of perforation in the sigmoid colon [14].…”

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.…”