ABSTRACT
BACKGROUND: Vascular Ehlers-Danlos syndrome is a rare and severe genetic condition leading to spontaneous, potentially life-threatening arterial and digestive complications. Colonic ruptures are a common feature of the disease, but clear recommendations on their management are lacking. OBJECTIVE: This study aimed to identify surgery-related morbidity and 30-day postoperative mortality after colonic perforation. DESIGN: This was a retrospective review. SETTING: A large cohort of patients with vascular Ehlers-Danlos syndrome was followed in a tertiary referral center. PATIENTS: Between 2000 and 2016, the French National Reference Centre for Rare Vascular Diseases (HEGP, AP-HP, Paris, France) followed 148 patients with molecularly proven vascular Ehlers-Danlos syndrome. MAIN OUTCOME MEASURES: The primary outcomes measured were surgery-related morbidity and 30-day postoperative mortality. RESULTS: Of 133 patients with molecularly proven vascular Ehlers-Danlos syndrome, 30 (22%) had a history of colonic perforation and 15 (50%) were males. These subjects were diagnosed with vascular Ehlers-Danlos syndrome at a younger age than patients with a history of GI events without colonic perforation (p = 0.0007). There were 46 colonic perforations, median 1.0 event per patient (interquartile range, 1.0-2.0). Reperforations occurred in 14 (47%) patients, mostly males. Surgical management consisted of Hartmann procedures or subtotal abdominal colectomies, with a nonnegligible rate of reperforation following partial colonic resection (11 patients, 41%). LIMITATIONS: The main limitations of this work are its retrospective design and that the diagnosis of vascular Ehlers-Danlos syndrome was made after colonic perforations in a majority of patients. CONCLUSION: Colonic perforations seem more severe in males, with a high rate of reperforation after Hartmann procedure. Subtotal colectomy may reduce digestive morbidity, particularly in male patients. Additional studies are required to identify other predictors of reperforation. See Video Abstract at http://links.lww.com/DCR/A937.
