Marfan syndrome is a connective tissue disorder that primarily affects the skeleton, eyes, and cardiovascular system. Diverticula develop in children and in young patients with Marfan syndrome presumably due to the defective collagen.

Ehlers-Danlos syndrome is a genetically determined, connective tissue disorder that results from mutations in the gene for type III procollagen (COL3A1) (548,549). It has multiple clinically distinct phenotypes, each showing different inheritance patterns and different biochemical abnormalities. The disease is characterized by hyperextensible skin, hypermobile joints, tissue fragility, and wide, thin scars frequently overlying bony prominences. Patient survival is shortened largely secondary to vascular rupture. The age at death ranges from 6 to 73 years with a median lifespan of 48 years (550). Ehlers-Danlos syndrome type IV is particularly lethal and characteristically presents with numerous problems, including rupture of major vessels with colorectal bleeding, prolapse, diverticulosis, diverticulitis, and spontaneous perforation (550,551). Bowel rupture usually occurs in the sigmoid colon and it accounts for approximately a quarter of major complications in young people (550). Small bowel and gastric perforation is much less common. Tissue fragility and poor wound healing contribute to surgical complications or death. Complications include wound dehiscence, evisceration, hemorrhage from abdominal vessels, fistulas, and adhesions. Some patients have recurrent perforations (550). The perforation and diverticulitis result from abnormal motility (451). Histopathologic examination of the arteries in patients with Ehlers-Danlos syndrome exhibits widespread structural abnormalities in the vessel wall in addition to aneurysms and rupture.