[The Ehlers-Danlos syndrome and its surgical implications]

Abstract

The Ehlers-Danlos syndrome, type IV, i.e. the arterial and ecchymotic variety, has a severe prognosis and may represent a threat to life in that it predisposes to spontaneous rupture of the intestine and large vessels. The authors report a case in which spontaneous rupture of the colon and thoracic aorta occurred in short succession. Description of the syndrome and its many variants is preceded by a brief explanatory note on the formation and composition of collagen and its different types. The authors stress the important surgical implications of the syndrome the special risks deriving from elective surgery. Serious consequences may also derive from pregnancy trauma and from acts such as arteriography, endotracheal intubation, endoscopy and other invasive procedures. After examining the cases reported in literature (Sacks, Barabas, Beighton Sykes), they point out that, contrary to what is generally believed, the syndrome is not rare and cases, sporadic or familial, of recurrent episodes of spontaneous rupture of the intestine and large vessels or peripheral arteries are frequent. The authors come to the following conclusions: rupture of the aorta may occur spontaneously or after minimal trauma in subjects with EDS type IV and the cases complicated by spontaneous colon perforation would take advantage from definitive colostomy, considering the high incidence of recurrent perforations when intestinal continuity is restored.