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

Autor:	Menni A; 1st Propaedeutic Department of Surgery, AHEPA University Hospital, Aristotle's University of Thessaloniki, 54636 Thessaloniki, Greece., Tzikos G; 1st Propaedeutic Department of Surgery, AHEPA University Hospital, Aristotle's University of Thessaloniki, 54636 Thessaloniki, Greece., Sarafis A; 1st Propaedeutic Department of Surgery, AHEPA University Hospital, Aristotle's University of Thessaloniki, 54636 Thessaloniki, Greece., Ververi A; Genetic Unit, 1st Department of Obstetrics & Gynaecology, Aristotle's University of Thessaloniki, Papageorgiou University Hospital, 56429 Thessaloniki, Greece., Chatziantoniou G; 1st Propaedeutic Department of Surgery, AHEPA University Hospital, Aristotle's University of Thessaloniki, 54636 Thessaloniki, Greece., Rafailidis V; Department of Radiology, AHEPA University Hospital, Aristotle's University of Thessaloniki, 54636 Thessaloniki, Greece., Panidis S; 1st Propaedeutic Department of Surgery, AHEPA University Hospital, Aristotle's University of Thessaloniki, 54636 Thessaloniki, Greece., Goulas P; 1st Propaedeutic Department of Surgery, AHEPA University Hospital, Aristotle's University of Thessaloniki, 54636 Thessaloniki, Greece., Karlafti E; Emergency Department, AHEPA University Hospital, Aristotle's University of Thessaloniki, 54634 Thessaloniki, Greece., Apostolidis S; 1st Propaedeutic Department of Surgery, AHEPA University Hospital, Aristotle's University of Thessaloniki, 54636 Thessaloniki, Greece., Giouleme O; 2nd Propedeutic Department of Internal Medicine, Aristotle's University of Thessaloniki, Hippokration University Hospital, 54642 Thessaloniki, Greece., Michalopoulos A; 1st Propaedeutic Department of Surgery, AHEPA University Hospital, Aristotle's University of Thessaloniki, 54636 Thessaloniki, Greece., Paramythiotis D; 1st Propaedeutic Department of Surgery, AHEPA University Hospital, Aristotle's University of Thessaloniki, 54636 Thessaloniki, Greece.
Jazyk:	angličtina
Zdroj:	Journal of personalized medicine [J Pers Med] 2023 Aug 10; Vol. 13 (8). Date of Electronic Publication: 2023 Aug 10.
DOI:	10.3390/jpm13081247
Abstrakt:	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.
Databáze:	MEDLINE
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