Preprint Case Report Version 1 Preserved in Portico This version is not peer-reviewed

Bowel Perforation in Vascular EDS: A Case Report and a Comprehensive Review of the Literature

Alexandra Menni
* ORCID logo ,
Georgios Tzikos
,
Alexandros Sarafis
,
Athina Ververi
,
George Chatziantoniou
* ,
Vasileios Rafailidis
,
Stavros Panidis
,
Patroklos Goulas
,
Eleni Karlafti
ORCID logo ,
Stylianos Apostolidis
,
Olga Giouleme
,
Antonios Michalopoulos
,
Daniel Paramythiotis
Version 1 : Received: 4 July 2023 / Approved: 5 July 2023 / Online: 5 July 2023 (11:48:13 CEST)

A peer-reviewed article of this Preprint also exists.

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: This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Download PDF Download Supplementary

Comments (0)

We encourage comments and feedback from a broad range of readers. See criteria for comments and our Diversity statement.

Leave a public comment
Send a private comment to the author(s)
* All users must log in before leaving a comment
Views 0
Downloads 0
Comments 0
Metrics 0
Get PDF Supplementary Files Cite Share 0
Bookmark BibSonomy Mendeley Reddit Delicious
×
Alerts
Notify me about updates to this article or when a peer-reviewed version is published.
We use cookies on our website to ensure you get the best experience.
Read more about our cookies here.