Multiple Vascular and Bowel Ruptures in an Adolescent Male with Sporadic Ehlers-Danlos Syndrome Type IV

Abstract

Ehlers-Danlos syndrome (EDS) type IV is a heritable disorder resulting from mutations in the COL3A1 gene that cause deficient production of type III collagen. Clinical manifestations of EDS type IV include hypermobility of small joints, excessive bruisability, thin translucent skin, poor wound healing, bowel rupture, and vascular rupture that is often fatal. A 14-year-old male without a family history of EDS died following multiple bowel and abdominal blood vessel ruptures. Even in areas apart from rupture sites, the bowel wall was thin because of diminished submucosa and muscularis propria. Similarly, the walls of blood vessels in bowel submucosa and elsewhere in the abdomen varied in thickness, and contained frayed and fragmented elastic tissue fibers. Fibroblasts cultured from the patient's skin secreted reduced quantities of type III collagen that was explained by a point mutation in one copy of the COL3A1 gene. EDS type IV should be strongly suspected in any patient with otherwise unexplainable bowel and/or vessel rupture.

Pathology of the large intestine in patients with vascular type Ehlers-Danlos syndrome

“…It may be clinically and pathologically misinterpreted as diverticular perforation, as diverticula occur secondary to the reduced resistance of the submucosal soft tissue [3,21]. Only few reports on structural abnormalities in perforated colons of Ehlers-Danlos syndrome type IV are available [3,5]. In this study, we present histopathological, immunohistochemical, and ultrastructural findings of resected colon specimens from related patients with Ehlers-Danlos syndrome type IV.…”

“…Spontaneous bowel perforation may be the first presentation of the disease. It may be clinically and pathologically misinterpreted as diverticular perforation, as diverticula occur secondary to the reduced resistance of the submucosal soft tissue [3,21]. Only few reports on structural abnormalities in perforated colons of Ehlers-Danlos syndrome type IV are available [3,5].…”

Gastrointestinal Surgery and Related Complications in Patients with Ehlers-Danlos Syndrome: A Systematic Review

“…related to examination and treatment). Spontaneous colon perforation has been reported in patients with EDS from age 5 to old age, but it is most often seen among young people and most frequently among patients with the vascular type of EDS [32]. Iatrogenic colon perforation is seen in relation to sigmoidoscopy, colonoscopy and the treatment of chronic constipation [33,34].…”

Spontaneous Mesenteric Hemorrhage Associated With Ehlers-Danlos Syndrome

“…8 The surgical management of arterial complications in patients with vascular EDS is very hazardous, with reported operative mortality of more than 40%. 4 In cases of rupture of middle-sized arteries, ligation with the sacrifice of nonessential organs is recommended.…”