Bowel Perforation in Vascular Ehlers–Danlos Syndrome: Case Report and Comprehensive Review

Journal of Personalized Medicine · 13 authors, 5 centres

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TL;DR

This paper presents a case of a 23-year-old male with vascular Ehlers-Danlos syndrome (vEDS) who had recurrent intestinal perforations and delayed diagnosis, and reviews the literature on this complication. The central finding is that intestinal perforation is a common, serious complication of vEDS, and the case highlights the need to suspect vEDS in young patients with spontaneous, recurrent gastrointestinal tract perforations.

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811 CHARS

The case describes a 23-year-old male with a history of multiple abdominal operations for recurrent intestinal perforations, a high-output enterocutaneous fistula, and postoperative complications, including wound dehiscence and bleeding during catheter placement. His diagnosis of vEDS was eventually confirmed by genetic testing after a long delay. The literature review of published cases indicates that gastrointestinal perforations account for 82% of all GI complications in vEDS, with a mean age of onset at 24 years and a mortality rate up to 12%. The perforations most commonly involve the colon. The authors conclude that clinicians should consider vEDS in young patients presenting with spontaneous and recurrent gastrointestinal perforations, even in the absence of typical histopathological findings.

STUDY TYPE

case_report

SPECIALTY

surgery

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ORIGINAL PAPER

PMC10455523

Bowel Perforation in Vascular Ehlers–Danlos Syndrome: Case Report and Comprehensive Review

Journal of Personalized Medicine

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ABSTRACT

Abstract Introduction: Ehlers–Danlos syndromes (EDS) comprise a rare variety of genetic disorders, affecting all types of collagen. Herein, we describe a case of the vascular type of EDS, with coexisting segmental absence of intestinal musculature, while simultaneously performing 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 a high-output enterocutaneous fistula was admitted to our surgical department for further evaluation and treatment. After detailed diagnostic testing, the diagnosis of vascular-type 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 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 Ehlers–Danlos Syndrome, bowel perforation, case report, collagen, gene mutations

CITATION EXPORT

Alexandra Menni, Georgios Tzikos, Alexandros Sarafis et al.. Bowel Perforation in Vascular Ehlers–Danlos Syndrome: Case Report and Comprehensive Review. Journal of Personalized Medicine. (2023). https://doi.org/10.3390/jpm13081247

AUTHORS

13 · 5 CENTRES

Alexandra Menni, Georgios Tzikos, Alexandros Sarafis, Athina Ververi, George Chatziantoniou, Vasileios Rafailidis, Stavros Panidis, Patroklos Goulas, Eleni Karlafti, Stylianos Apostolidis, Olga Giouleme, Antonios Michalopoulos, Daniel Paramythiotis

11st Propaedeutic Department of Surgery, AHEPA University Hospital, Aristotle’s University of Thessaloniki, 54636 Thessaloniki, Greece; [email protected] (G.T.); [email protected] (A.S.); [email protected] (G.C.); [email protected] (S.P.); [email protected] (P.G.); [email protected] (S.A.); [email protected] (A.M.); [email protected] (D.P.)
2Genetic Unit, 1st Department of Obstetrics & Gynaecology, Aristotle’s University of Thessaloniki, Papageorgiou University Hospital, 56429 Thessaloniki, Greece; [email protected]
3Department of Radiology, AHEPA University Hospital, Aristotle’s University of Thessaloniki, 54636 Thessaloniki, Greece; [email protected]
4Emergency Department, AHEPA University Hospital, Aristotle’s University of Thessaloniki, 54634 Thessaloniki, Greece; [email protected]
52nd Propedeutic Department of Internal Medicine, Aristotle’s University of Thessaloniki, Hippokration University Hospital, 54642 Thessaloniki, Greece; [email protected]