Menni, A.; Tzikos, G.; Sarafis, A.; Ververi, A.; Chatziantoniou, G.; Rafailidis, V.; Panidis, S.; Goulas, P.; Karlafti, E.; Apostolidis, S.; Giouleme, O.; Michalopoulos, A.; Paramythiotis, D. Bowel Perforation in Vascular Ehlers–Danlos Syndrome: Case Report and Comprehensive Review. J. Pers. Med.2023, 13, 1247.
Menni, A.; Tzikos, G.; Sarafis, A.; Ververi, A.; Chatziantoniou, G.; Rafailidis, V.; Panidis, S.; Goulas, P.; Karlafti, E.; Apostolidis, S.; Giouleme, O.; Michalopoulos, A.; Paramythiotis, D. Bowel Perforation in Vascular Ehlers–Danlos Syndrome: Case Report and Comprehensive Review. J. Pers. Med. 2023, 13, 1247.
Menni, A.; Tzikos, G.; Sarafis, A.; Ververi, A.; Chatziantoniou, G.; Rafailidis, V.; Panidis, S.; Goulas, P.; Karlafti, E.; Apostolidis, S.; Giouleme, O.; Michalopoulos, A.; Paramythiotis, D. Bowel Perforation in Vascular Ehlers–Danlos Syndrome: Case Report and Comprehensive Review. J. Pers. Med.2023, 13, 1247.
Menni, A.; Tzikos, G.; Sarafis, A.; Ververi, A.; Chatziantoniou, G.; Rafailidis, V.; Panidis, S.; Goulas, P.; Karlafti, E.; Apostolidis, S.; Giouleme, O.; Michalopoulos, A.; Paramythiotis, D. Bowel Perforation in Vascular Ehlers–Danlos Syndrome: Case Report and Comprehensive Review. J. Pers. Med. 2023, 13, 1247.
Abstract
Introduction: Ehlers-Danlos syndromes (EDS) constitute a rare entity of genetic disorders, affecting the collagen of all types all. Herein, we describe a case of vascular type of EDS, with coexisting segmental absence of intestinal musculature, while performing simultaneously a narrative review of the existing literature.
Case Presentation: A 23-year-old male patient with a history of multiple abdominal operations due to recurrent bowel perforations and the presence of high-output enterocutaneous fistula was admitted to our surgical department for further evaluation and treatment. After detailed diagnostic testing, the diagnosis of vascular type of EDS (vEDS) was made and a conservative therapeutic approach was adopted. In addition, a comprehensive review of the international literature was carried out by applying the appropriate search terms.
Results: The diagnosis of vEDS was molecularly confirmed by means of genetic testing. The patient was treated conservatively, with parenteral nutrition and supportive methods. Thirty-four cases of bowel perforation in vEDS have been reported so far. Interestingly, this case is the second one ever to report with co-existence of vEDS with Segmental Absence of Intestinal Musculature.
Conclusions: Establishing the diagnosis of vEDS promptly is of vital significance in order to ensure that patients receive appropriate treatment. Due to initial non-specific clinical presentation, EDS should always be included in the differential diagnoses of young patients with unexplained perforations of the gastrointestinal tract.
Keywords
vascular EDS; bowel perforation; case report; collagen; gene mutations
Subject
Medicine and Pharmacology, Surgery
Copyright:
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