Abdominal complications of vascular Ehlers-Danlos syndrome

Ehlers-Danlos syndrome (EDS) is a rare genetic disorder that affects the synthesis and function of collagen. The vascular type (vEDS) is one of the most severe variants of the disease, associated with high mortality rates due to the development of life-threatening complications. The most frequent manifestations include spontaneous perforations of the intestinal wall and spontaneous ruptures of arteries. This paper presents the disease course of a patient with severe vascular EDS complicated by advanced abdominal manifestations, detailing the staged surgical treatment and the eventual cause of death. At the age of 15, the patient was admitted to the Irkutsk Regional Children's Clinical Hospital with a clinical presentation of complicated appendicitis. The diagnosis of vascular EDS had been established in early childhood based on genetic testing. Intraoperative laparoscopy revealed a spontaneous perforation of the sigmoid colon. Initially, a laparoscopic appendectomy was performed for a gangrenous appendix. However, further revision confirmed the sigmoid perforation. The procedure was converted to a midline laparotomy, the affected intestinal segment was resected, and an end sigmoid colostomy was created. In the postoperative period, the patient developed recurrent spontaneous perforations of the small intestine, requiring multiple laparotomies and primary suturing of the bowel wall defects. During the fourth surgical intervention, a laparostomy was formed, through which a high-output small bowel fistula was noted. During the reconstructive stage, the fistula and laparostomy were successfully closed. After a 3-month recovery period, the sigmoid colostomy was reversed. The immediate postoperative period was uneventful. Three months later, at home and in a state of complete well-being, the patient experienced a sudden clinical deterioration with a sudden drop in blood pressure (hypotension) and died during emergency hospitalization. A postmortem forensic medical examination revealed a spontaneous rupture of the abdominal aorta as the cause of death.