Abstract: Management of spontaneous colonic perforation in ehlers-danlos syndrome type IV.

[Guest guest]

Management of spontaneous colonic perforation in ehlers-danlos syndrome type IV.

Fuchs JR, Fishman SJ.

Department of Surgery, Children's Hospital, Boston, MA 02115, USA.

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.