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Spontaneous colon perforations associated with a vascular type of ehlers-danlos syndrome
Akira Yoneda1, Kazuya Okada1, Hitoshi Okubo1
1Department of Surgery, Kouseikai Hospital, Nagasaki, Japan.
Insights
Vascular type Ehlers-Danlos syndrome (vEDS) can cause severe bowel complications. A missense mutation in the COL3A1 gene was identified in a vEDS patient presenting with sigmoid colon rupture.
Area of Science:
- Genetics
- Vascular Biology
- Gastroenterology
Background:
- Ehlers-Danlos syndrome, vascular type (vEDS) is an autosomal dominant connective tissue disorder.
- It results from mutations in the COL3A1 gene, affecting type III collagen synthesis.
- vEDS leads to arterial, bowel, and uterine fragility, often causing spontaneous rupture.
Observation:
- A 20-year-old female presented with acute abdominal pain.
- CT imaging revealed sigmoid colon dilatation and intraperitoneal fluid.
- Laparotomy demonstrated sigmoid colon wall breakdown, impending perforation, and mesenteric hemorrhage.
Findings:
- Surgical intervention included sigmoid colon resection and end colostomy.
- Physical examination revealed characteristic vEDS features: joint hypermobility, thin skin, and facial abnormalities.
- Genetic analysis identified a novel missense mutation (c.2150 G>A; Gly717Asp) in the COL3A1 gene's triple helix region.
Implications:
- This case highlights the critical gastrointestinal manifestations of vEDS.
- Early diagnosis and genetic confirmation of COL3A1 mutations are crucial for managing vEDS patients.
- Understanding genotype-phenotype correlations in vEDS can improve patient outcomes and risk stratification.
Abstract:
Ehlers-Danlos syndrome, vascular type (vEDS) (MIM #130050) is an autosomal dominant disorder caused by mutation in the type III collagen gene, COL3A1, leading to fragility of blood vessels, bowel and uterus that leads to spontaneous rupture. We report a previously undiagnosed vEDS patient with bowel complications. A 20-year-old female patient was referred to our hospital with abdominal pain. Computed tomography showed notable dilatation of the sigmoid colon with intraperitoneal fluid. Laparotomy revealed dilatation of the sigmoid colon, breakdown of serosa and muscularis propria of the sigmoid colon with impending perforation, and intra-abdominal hemorrhage caused by breakdown of the mesenterium. Resection of the sigmoid colon with Hartmann's pouch and an end colostomy were performed. Physical examination showed joint hypermobility, translucent skin with venous prominence and facial structure abnormalities. Genetic analysis using cDNA extracted from the patient's fibroblasts by reverse transcriptase polymerase chain reaction direct sequencing showed a missense mutation within the triple helix region of COL3A1 (c.2150 G>A; Gly717Asp).
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