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Colonoscopic perforation leading to a diagnosis of Ehlers Danlos syndrome type IV: a case report and review of the literature.

Rana M, Aziz O, Purkayastha S, Lloyd J, Wolfe J, Ziprin P - J Med Case Rep (2011)

Bottom Line: Invasive procedures such as arteriograms and endoscopies are relatively contra-indicated in Ehlers-Danlos syndrome type IV.Furthermore, management of vascular aneurysms in patients with Ehlers-Danlos syndrome type IV requires consideration of the risks of endovascular stenting, as opposed to open surgical intervention, because of tissue friability.Genetic and reproductive counseling should be offered to affected individuals and their families.

View Article: PubMed Central - HTML - PubMed

Affiliation: Division of Surgery, Department of Surgery and Cancer, Imperial College London, St Mary's Hospital, South Wharf Road, London W2 1NY, UK. mariam.rana02@imperial.ac.uk.

ABSTRACT

Introduction: Colonoscopic perforation is a rare but serious complication of colonoscopy. Factors known to increase the risk of perforation include colonic strictures, extensive diverticulosis, and friable tissues. We describe the case of a man who was found to have perforation of the sigmoid colon secondary to an undiagnosed connective tissue disorder (Ehlers-Danlos syndrome type IV) while undergoing surveillance for hereditary non-polyposis colorectal cancer.

Case presentation: A 33-year-old Caucasian man presented to our hospital with an acute abdomen following a colonoscopy five days earlier as part of hereditary non-polyposis colorectal cancer screening. His medical history included bilateral clubfoot. His physical examination findings suggested left iliac fossa peritonitis. A computed tomographic scan revealed perforation of the sigmoid colon and incidentally a right common iliac artery aneurysm as well. Hartmann's procedure was performed during laparotomy. The patient recovered well post-operatively and was discharged. Reversal of the Hartmann's procedure was performed six months later. This procedure was challenging because of dense adhesions and friable bowel. The histology of bowel specimens from this surgery revealed thinning and fibrosis of the muscularis externa. The patient was subsequently noted to have transparency of truncal skin with easily visible vessels. An underlying collagen vascular disorder was suspected, and genetic testing revealed a mutation in the collagen type III, α1 (COL3A1) gene, which is consistent with a diagnosis of Ehlers-Danlos syndrome type IV.

Conclusions: Ehlers-Danlos syndrome type IV, the vascular type, is a rare disorder caused by mutations in the COL3A1 gene on chromosome 2q31. It is characterized by translucent skin, clubfoot, and the potentially fatal complications of spontaneous large vessel rupture, although spontaneous uterine and colonic perforations have also been reported in the literature. The present case presentation describes the identification of Ehlers-Danlos syndrome type IV in a patient with a non-spontaneous colonic perforation secondary to an invasive investigation for another hereditary disorder pre-disposing him to colorectal cancer. Invasive procedures such as arteriograms and endoscopies are relatively contra-indicated in Ehlers-Danlos syndrome type IV. Alternatives with a lower risk of perforation, such as computed tomographic colonography, need to be considered for patients requiring ongoing colorectal cancer surveillance. Furthermore, management of vascular aneurysms in patients with Ehlers-Danlos syndrome type IV requires consideration of the risks of endovascular stenting, as opposed to open surgical intervention, because of tissue friability. Genetic and reproductive counseling should be offered to affected individuals and their families.

No MeSH data available.


Related in: MedlinePlus

Computed tomographic scan of the patient's abdomen showing pockets of free air and fluid in proximity to the jejunum and a thickened left colon with inflammatory stranding. Inflammatory changes are present in the peritoneal fat, especially adjacent to the left colon. These findings are consistent with a perforated sigmoid colon.
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Figure 1: Computed tomographic scan of the patient's abdomen showing pockets of free air and fluid in proximity to the jejunum and a thickened left colon with inflammatory stranding. Inflammatory changes are present in the peritoneal fat, especially adjacent to the left colon. These findings are consistent with a perforated sigmoid colon.

Mentions: His physical examination was notable for pyrexia and tachycardia with signs of localized left iliac fossa peritonitis. A computed tomography (CT) scan of the abdomen and pelvis showed inflammation of the sigmoid-descending colon junction and the adjacent loop of the proximal jejunum, which were associated with a small pocket of free air and free pelvic fluid (Figure 1). Incidentally, an isolated right common iliac artery (RCIA) aneurysm measuring 2.7 cm in diameter was also noted (Figure 2). As the clinical and radiological findings suggested a controlled localized perforation of the sigmoid colon, he was initially managed non-operatively with immediate bowel rest, intravenous fluid resuscitation and broad spectrum antibiotics. However, over the next 24 hours, he developed signs of more extensive peritonitis, so we proceeded to perform an emergency laparotomy.


Colonoscopic perforation leading to a diagnosis of Ehlers Danlos syndrome type IV: a case report and review of the literature.

Rana M, Aziz O, Purkayastha S, Lloyd J, Wolfe J, Ziprin P - J Med Case Rep (2011)

Computed tomographic scan of the patient's abdomen showing pockets of free air and fluid in proximity to the jejunum and a thickened left colon with inflammatory stranding. Inflammatory changes are present in the peritoneal fat, especially adjacent to the left colon. These findings are consistent with a perforated sigmoid colon.
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC3141693&req=5

Figure 1: Computed tomographic scan of the patient's abdomen showing pockets of free air and fluid in proximity to the jejunum and a thickened left colon with inflammatory stranding. Inflammatory changes are present in the peritoneal fat, especially adjacent to the left colon. These findings are consistent with a perforated sigmoid colon.
Mentions: His physical examination was notable for pyrexia and tachycardia with signs of localized left iliac fossa peritonitis. A computed tomography (CT) scan of the abdomen and pelvis showed inflammation of the sigmoid-descending colon junction and the adjacent loop of the proximal jejunum, which were associated with a small pocket of free air and free pelvic fluid (Figure 1). Incidentally, an isolated right common iliac artery (RCIA) aneurysm measuring 2.7 cm in diameter was also noted (Figure 2). As the clinical and radiological findings suggested a controlled localized perforation of the sigmoid colon, he was initially managed non-operatively with immediate bowel rest, intravenous fluid resuscitation and broad spectrum antibiotics. However, over the next 24 hours, he developed signs of more extensive peritonitis, so we proceeded to perform an emergency laparotomy.

Bottom Line: Invasive procedures such as arteriograms and endoscopies are relatively contra-indicated in Ehlers-Danlos syndrome type IV.Furthermore, management of vascular aneurysms in patients with Ehlers-Danlos syndrome type IV requires consideration of the risks of endovascular stenting, as opposed to open surgical intervention, because of tissue friability.Genetic and reproductive counseling should be offered to affected individuals and their families.

View Article: PubMed Central - HTML - PubMed

Affiliation: Division of Surgery, Department of Surgery and Cancer, Imperial College London, St Mary's Hospital, South Wharf Road, London W2 1NY, UK. mariam.rana02@imperial.ac.uk.

ABSTRACT

Introduction: Colonoscopic perforation is a rare but serious complication of colonoscopy. Factors known to increase the risk of perforation include colonic strictures, extensive diverticulosis, and friable tissues. We describe the case of a man who was found to have perforation of the sigmoid colon secondary to an undiagnosed connective tissue disorder (Ehlers-Danlos syndrome type IV) while undergoing surveillance for hereditary non-polyposis colorectal cancer.

Case presentation: A 33-year-old Caucasian man presented to our hospital with an acute abdomen following a colonoscopy five days earlier as part of hereditary non-polyposis colorectal cancer screening. His medical history included bilateral clubfoot. His physical examination findings suggested left iliac fossa peritonitis. A computed tomographic scan revealed perforation of the sigmoid colon and incidentally a right common iliac artery aneurysm as well. Hartmann's procedure was performed during laparotomy. The patient recovered well post-operatively and was discharged. Reversal of the Hartmann's procedure was performed six months later. This procedure was challenging because of dense adhesions and friable bowel. The histology of bowel specimens from this surgery revealed thinning and fibrosis of the muscularis externa. The patient was subsequently noted to have transparency of truncal skin with easily visible vessels. An underlying collagen vascular disorder was suspected, and genetic testing revealed a mutation in the collagen type III, α1 (COL3A1) gene, which is consistent with a diagnosis of Ehlers-Danlos syndrome type IV.

Conclusions: Ehlers-Danlos syndrome type IV, the vascular type, is a rare disorder caused by mutations in the COL3A1 gene on chromosome 2q31. It is characterized by translucent skin, clubfoot, and the potentially fatal complications of spontaneous large vessel rupture, although spontaneous uterine and colonic perforations have also been reported in the literature. The present case presentation describes the identification of Ehlers-Danlos syndrome type IV in a patient with a non-spontaneous colonic perforation secondary to an invasive investigation for another hereditary disorder pre-disposing him to colorectal cancer. Invasive procedures such as arteriograms and endoscopies are relatively contra-indicated in Ehlers-Danlos syndrome type IV. Alternatives with a lower risk of perforation, such as computed tomographic colonography, need to be considered for patients requiring ongoing colorectal cancer surveillance. Furthermore, management of vascular aneurysms in patients with Ehlers-Danlos syndrome type IV requires consideration of the risks of endovascular stenting, as opposed to open surgical intervention, because of tissue friability. Genetic and reproductive counseling should be offered to affected individuals and their families.

No MeSH data available.


Related in: MedlinePlus