Total colectomy in Vascular Ehlers Danlos syndrome a case report and literature review

Ehlers Danlos syndromes (EDS) are a group of genetic disorders, characterized by skin hyperelasticity, joint hyperlaxity and tissue weakness. Vascular EDS is rare and is differs from other types of EDS by an inconsistent acrogenic morphotype and the occurrence of severe digestive and vascular complications, which can be lifethreatening.

We report the case of a 27-year-old man with a type IV vascular Ehlers-Danlos syndrome revealed by a colonic perforation after appendectomy for peritonitis secondary to appendicitis. The etiology of the perforation remained a challenge till a genetic research was carried out for COL3A1 gene mutation, which was positive in favor of vascular Ehlers Danlos disease. Then, a totalization of the colectomy with ileorectal anastomosis was performed.

Vascular Ehlers Danlos syndrome (VEDS) is due to qualitative and quantitative abnormalities in the synthesis of type III collagen, which is a major constituent of the vessel wall, skin, joint capsules, uterus and gastrointestinal tract, particularly the colon. Colonic perforation, particularly sigmoidal perforation, is the most frequent complication in SEDV and most often precedes the molecular diagnosis. Colonic perforations are uncommon. The Hartmann procedure is a well-established surgical treatment modality, especially for emergency surgery. Given the iterative risk of colonic perforation and anastomotic leakage, preventive treatment by total colectomy with ileo-rectal anastomosis or definitive ileostomy is recommended by several authors.

SEDV is a rare pathology with a difficult diagnosis. However, it should be keeped in mind when there is any spontaneous colonic perforation in the young people.