CLINICAL CHALLENGES AND IMAGES IN GI A Woman With Spontaneous Colonic Perforation Bradley Anderson1 and Seth Sweetser1,2 1
Department of Internal Medicine and 2Division of Gastroenterology and Hepatology, Mayo Clinic College of Medicine, Rochester, Minnesota
Question: A 48-yearold woman presented with a 2-day history of abdominal pain and nausea. The patient’s history included a prior hepatic artery aneurysm rupture (Figure A; thin arrow, right hepatic artery aneurysm; thick arrow, central hepatic hematoma; star, large, subcapsular hematoma) requiring angioembolization coil, spontaneous jejunal intramural hematoma (Figure B; arrow), and probable delayed gastric emptying as demonstrated by marked gastric distention on abdominal computed tomographic (CT) imaging (Figure C). Physical examination revealed generalized abdominal tenderness accompanied by diffuse peritoneal signs without accompanying distention. There was no evidence of joint hypermobility or skin laxity. The only abnormal laboratory value was a mildly elevated alkaline phosphatase. CT showed intraperitoneal free air with focal dilation in the mid-transverse colon (Figure D; arrow), representing spontaneous colonic perforation. She underwent total abdominal colectomy with resection of the distal ileum and creation of an end-ileostomy. Subsequent genetic testing revealed a COL3A1 gene mutation. What is the diagnosis? Look on page 1225 for the answer and see the Gastroenterology web site (www.gastrojournal.org) for more information on submitting your favorite image to Clinical Challenges and Images in GI.
Conflicts of interest The authors disclose no conflicts. © 2014 by the AGA Institute 0016-5085/$36.00 http://dx.doi.org/10.1053/j.gastro.2014.07.042
Gastroenterology 2014;147:1224–1225
CLINICAL CHALLENGES AND IMAGES IN GI Answer to the Clinical Challenges and Images in GI Question: Image 2 (page 1224): Vascular Ehlers–Danlos Syndrome Type 4 With Multiple Gastrointestinal Manifestations Vascular Ehlers–Danlos syndrome type 4 (EDS IV) represents a distinct subtype within the broader category of hereditary connective tissue diseases termed Ehlers–Danlos syndrome. As an unusual autosomal-dominant disorder, the overall incidence and prevalence of EDS IV remain largely undefined.1 EDS IV is characterized by a genetic mutation in COL3A1 leading to the formation of abnormal type III procollagen, the precursor to type III collagen that primarily is found in skin, internal organs, uterus, and blood vessels.2 A clinical diagnosis of EDS IV in this case was supported by the spontaneous occurrence of hepatic artery aneurysm rupture, small bowel intramural hematoma, and colonic perforation in the presence of delayed gastric emptying. The diagnosis was secured by genetic testing for the COL3A1 mutation. A variety of clinical features are seen in the different forms of EDS, often resulting in skin hyperextensibility, joint hypermobility, and ocular abnormalities. The particular manifestations depend on the specific type of EDS. As in this case, individuals with EDS IV may lack prominent skin hyperextensibility, joint hypermobility, or ocular abnormalities. Although other forms of EDS are also associated with gastrointestinal complications, patients with EDS IV are traditionally considered at greatest risk.2 This case is unique in that multiple gastrointestinal complications were observed in the same patient. The associated vascular manifestations of EDS IV are also of significant consequence, including dissection or rupture of arterial structures within the abdominal, thoracic, or central nervous system. Given the mortality associated with these often sporadic complications, the diagnosis of EDS IV is often recognized in the post mortem setting.1 As in our case, spontaneous or unexpected bowel perforation, especially in the setting of prior vascular phenomenon, require further investigation. Although no treatment for EDS IV exists currently, awareness of this diagnosis has potential surgical, maternal, and familial implications.
References 1. 2.
Pepin M, Schwarze U, Superti-Furga A, et al. Clinical and genetic features of Ehlers–Danlos syndrome type IV, the vascular type. N Engl J Med 2000;342:673–680. Burcharth J, Rosenberg J. Gastrointestinal surgery and related complications in patients with Ehlers-Danlos syndrome: a systematic review. Dig Surg 2012;29:349–357.
For submission instructions, please see the Gastroenterology web site (www.gastrojournal.org).
1225
Department of Internal Medicine and 2Division of Gastroenterology and Hepatology, Mayo Clinic College of Medicine, Rochester, Minnesota
Question: A 48-yearold woman presented with a 2-day history of abdominal pain and nausea. The patient’s history included a prior hepatic artery aneurysm rupture (Figure A; thin arrow, right hepatic artery aneurysm; thick arrow, central hepatic hematoma; star, large, subcapsular hematoma) requiring angioembolization coil, spontaneous jejunal intramural hematoma (Figure B; arrow), and probable delayed gastric emptying as demonstrated by marked gastric distention on abdominal computed tomographic (CT) imaging (Figure C). Physical examination revealed generalized abdominal tenderness accompanied by diffuse peritoneal signs without accompanying distention. There was no evidence of joint hypermobility or skin laxity. The only abnormal laboratory value was a mildly elevated alkaline phosphatase. CT showed intraperitoneal free air with focal dilation in the mid-transverse colon (Figure D; arrow), representing spontaneous colonic perforation. She underwent total abdominal colectomy with resection of the distal ileum and creation of an end-ileostomy. Subsequent genetic testing revealed a COL3A1 gene mutation. What is the diagnosis? Look on page 1225 for the answer and see the Gastroenterology web site (www.gastrojournal.org) for more information on submitting your favorite image to Clinical Challenges and Images in GI.
Conflicts of interest The authors disclose no conflicts. © 2014 by the AGA Institute 0016-5085/$36.00 http://dx.doi.org/10.1053/j.gastro.2014.07.042
Gastroenterology 2014;147:1224–1225
CLINICAL CHALLENGES AND IMAGES IN GI Answer to the Clinical Challenges and Images in GI Question: Image 2 (page 1224): Vascular Ehlers–Danlos Syndrome Type 4 With Multiple Gastrointestinal Manifestations Vascular Ehlers–Danlos syndrome type 4 (EDS IV) represents a distinct subtype within the broader category of hereditary connective tissue diseases termed Ehlers–Danlos syndrome. As an unusual autosomal-dominant disorder, the overall incidence and prevalence of EDS IV remain largely undefined.1 EDS IV is characterized by a genetic mutation in COL3A1 leading to the formation of abnormal type III procollagen, the precursor to type III collagen that primarily is found in skin, internal organs, uterus, and blood vessels.2 A clinical diagnosis of EDS IV in this case was supported by the spontaneous occurrence of hepatic artery aneurysm rupture, small bowel intramural hematoma, and colonic perforation in the presence of delayed gastric emptying. The diagnosis was secured by genetic testing for the COL3A1 mutation. A variety of clinical features are seen in the different forms of EDS, often resulting in skin hyperextensibility, joint hypermobility, and ocular abnormalities. The particular manifestations depend on the specific type of EDS. As in this case, individuals with EDS IV may lack prominent skin hyperextensibility, joint hypermobility, or ocular abnormalities. Although other forms of EDS are also associated with gastrointestinal complications, patients with EDS IV are traditionally considered at greatest risk.2 This case is unique in that multiple gastrointestinal complications were observed in the same patient. The associated vascular manifestations of EDS IV are also of significant consequence, including dissection or rupture of arterial structures within the abdominal, thoracic, or central nervous system. Given the mortality associated with these often sporadic complications, the diagnosis of EDS IV is often recognized in the post mortem setting.1 As in our case, spontaneous or unexpected bowel perforation, especially in the setting of prior vascular phenomenon, require further investigation. Although no treatment for EDS IV exists currently, awareness of this diagnosis has potential surgical, maternal, and familial implications.
References 1. 2.
Pepin M, Schwarze U, Superti-Furga A, et al. Clinical and genetic features of Ehlers–Danlos syndrome type IV, the vascular type. N Engl J Med 2000;342:673–680. Burcharth J, Rosenberg J. Gastrointestinal surgery and related complications in patients with Ehlers-Danlos syndrome: a systematic review. Dig Surg 2012;29:349–357.
For submission instructions, please see the Gastroenterology web site (www.gastrojournal.org).
1225
