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Management of spontaneous colonic perforation in Ehlers-Danlos syndrome type IV
Julie R Fuchs1, Steven J Fishman
1Department of Surgery, Children's Hospital, Boston, MA 02115, USA.
Insights
Ehlers-Danlos syndrome type IV (EDS-IV) can cause spontaneous colonic perforation. Subtotal colectomy with primary anastomosis is a viable surgical option for managing this complication, offering a good outcome in young patients.
Area of Science:
- Genetics
- Gastroenterology
- Surgery
Background:
- Ehlers-Danlos syndrome type IV (EDS-IV) is a rare connective tissue disorder characterized by a COL3A1 gene mutation.
- Colonic perforation is a serious, potentially fatal, manifestation of EDS-IV.
- Optimal surgical management for colonic perforation in EDS-IV remains debated.
Observation:
- A 14-year-old female with a family history of fatal colonic rupture presented with peritonitis and sigmoid colon perforation.
- Initial management involved exteriorization of the perforation as a loop colostomy.
- Molecular studies confirmed EDS-IV due to a COL3A1 gene mutation.
Findings:
- The patient underwent a subtotal colectomy and ileoproctostomy 4.5 years after initial presentation, restoring intestinal continuity.
- At 5-year follow-up, the patient experienced no further complications, anastomotic leakage, or reperforation.
- This case suggests subtotal colectomy may be a reasonable surgical approach for colonic perforation in EDS-IV.
Implications:
- Subtotal colectomy with primary anastomosis may be a safe and effective surgical strategy for managing colonic perforations in young EDS-IV patients.
- Avoiding end-ileostomy in selected cases can improve quality of life.
- Long-term, close follow-up is essential due to the unknown natural history of intestinal complications in EDS-IV.
Abstract:
A 14-year-old girl with a family history of fatal colonic rupture, presented with a 2-day history of abdominal pain and signs of peritonitis. At laparotomy, a full-thickness perforation of the sigmoid colon was found, which was exteriorized as a loop colostomy. Subsequently, molecular studies of the patient's cultured fibroblasts found a point mutation in the COL3A1 gene, confirming a diagnosis of Ehlers-Danlos syndrome type IV (EDS-IV). Four and a half years later, a total abdominal colectomy and ileoproctostomy were performed, restoring intestinal continuity. At 5 years follow-up, the patient has had no further complications. Although spontaneous colonic perforation is a well-reported manifestation of EDS-IV, a consensus on the surgical management of this complication in EDS-IV has yet to be determined. Given the high rate of reperforation in EDS-IV when the colon is left in place and the low incidence of reported small bowel and rectal perforations, subtotal colectomy is a reasonable treatment. Primary anastomosis and avoidance of an end-ileostomy was possible in this young patient, with no evidence of anastomotic leakage nor reperforation to date. Lifelong close follow-up should be continued in these patients, because the natural history of this anatomy in EDS-IV is not known.
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