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

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JOURNAL OF PERSONALIZED MEDICINE
卷 13, 期 8, 页码 -

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MDPI
DOI: 10.3390/jpm13081247

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vascular Ehlers-Danlos Syndrome; bowel perforation; case report; collagen; gene mutations

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This article describes a case of vascular type Ehlers-Danlos syndrome (vEDS) with coexisting segmental absence of intestinal musculature, and reviews the existing literature on this topic. The diagnosis of vEDS was confirmed through genetic testing and conservative treatment was adopted. A comprehensive review of the international literature revealed 34 reported cases of bowel perforation in vEDS so far.
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.

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