Colonoscopic Perforation and Ehlers-Danlos Syndrome Type IV: A Case Report
Author Information
Author(s): Rana Mariam, Aziz Omer, Purkayastha Sanjay, Lloyd Josephine, Wolfe John, Ziprin Paul
Primary Institution: Imperial College London
Hypothesis
Can colonoscopic perforation reveal an undiagnosed connective tissue disorder?
Conclusion
The case illustrates how a colonoscopic perforation led to the diagnosis of Ehlers-Danlos syndrome type IV in a patient.
Supporting Evidence
- The patient had a history of congenital clubfoot and a family history of colorectal cancer.
- Genetic testing revealed a mutation in the COL3A1 gene, consistent with Ehlers-Danlos syndrome type IV.
- Colonoscopy is a known risk factor for perforation, especially in patients with connective tissue disorders.
Takeaway
A man had a serious complication after a colonoscopy, which helped doctors discover he had a rare condition that makes his tissues fragile.
Methodology
Case report detailing the patient's medical history, examination, imaging, surgical intervention, and genetic testing.
Limitations
The diagnosis of Ehlers-Danlos syndrome type IV was made retrospectively after a complication.
Participant Demographics
33-year-old Caucasian male with a family history of colorectal cancer.
Digital Object Identifier (DOI)
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