{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T09:19:03Z","timestamp":1790414343059,"version":"4.1.0"},"reference-count":26,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2018,11,20]],"date-time":"2018-11-20T00:00:00Z","timestamp":1542672000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J of Gastro and Hepatol"],"published-print":{"date-parts":[[2019,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background and Aim<\/jats:title><jats:p>Vascular Ehlers\u2013Danlos syndrome (vEDS) is a rare connective tissue disorder due to heterozygous mutations in the <jats:italic>COL3A1<\/jats:italic> gene with a dominant negative effect. Spontaneous bowel perforation and intra\u2010abdominal organ rupture are common complications of vEDS. Other gastrointestinal (GI) manifestations may occur but have not been extensively characterized. We herein describe the natural history of GI events and surgery\u2010related complications in patients with vEDS.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>A retrospective review of GI events in a large cohort of molecularly proven vEDS patients was conducted, after exclusion of mild forms of the disease.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Of 133 patients, 41% had a history of GI manifestations with 112 events, mean 2.0\u00a0\u00b1\u00a01.3 events per patient. There was an earlier occurrence of GI events in men (<jats:italic>P<\/jats:italic> 0.008). Cumulative incidence was 58% for all patients, higher in men and in patients with splice\u2010site variants. Recurrence of GI events was reported in more than 50% of patients. Colonic perforation was the first digestive event for 47% of patients. Of 85 GI surgeries, 37 (43%) were complicated with 43 events. Nine deaths were reported in this population.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Vascular Ehlers\u2013Danlos syndrome is characterized not only by bowel perforation but also by a wide variety of GI complications that occur in close to half (41%) of patients. The pattern of GI fragility seems more severe in males and splice\u2010site variants. Complications of GI surgery are common and are related with tissue fragility\/friability.<\/jats:p><\/jats:sec>","DOI":"10.1111\/jgh.14522","type":"journal-article","created":{"date-parts":[[2018,10,25]],"date-time":"2018-10-25T03:54:25Z","timestamp":1540439665000},"page":"857-863","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":18,"title":["Natural history of gastrointestinal manifestations in vascular Ehlers\u2013Danlos syndrome: A 17\u2010year retrospective review"],"prefix":"10.1111","volume":"34","author":[{"given":"Michael","family":"Frank","sequence":"first","affiliation":[{"name":"Service de g\u00e9n\u00e9tique, Centre de R\u00e9f\u00e9rence des Maladies Vasculaires Rares AP\u2010HP, H\u00f4pital Europ\u00e9en Georges Pompidou  Paris France"},{"name":"Paris centre de Recherche Cardiovasculaire\u2014PARCC INSERM, U970  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Salma","family":"Adham","sequence":"additional","affiliation":[{"name":"Service de g\u00e9n\u00e9tique, Centre de R\u00e9f\u00e9rence des Maladies Vasculaires Rares AP\u2010HP, H\u00f4pital Europ\u00e9en Georges Pompidou  Paris France"},{"name":"Facult\u00e9 de M\u00e9decine Universit\u00e9 Paris Descartes  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Franck","family":"Zinzindohou\u00e9","sequence":"additional","affiliation":[{"name":"Facult\u00e9 de M\u00e9decine Universit\u00e9 Paris Descartes  Paris France"},{"name":"Service de chirurgie digestive AP\u2010HP, H\u00f4pital Europ\u00e9en Georges Pompidou  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xavier","family":"Jeunemaitre","sequence":"additional","affiliation":[{"name":"Service de g\u00e9n\u00e9tique, Centre de R\u00e9f\u00e9rence des Maladies Vasculaires Rares AP\u2010HP, H\u00f4pital Europ\u00e9en Georges Pompidou  Paris France"},{"name":"Paris centre de Recherche Cardiovasculaire\u2014PARCC INSERM, U970  Paris France"},{"name":"Facult\u00e9 de M\u00e9decine Universit\u00e9 Paris Descartes  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2018,11,20]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM200003093421001"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2014.72"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1159\/000343738"},{"key":"e_1_2_5_5_1","first-page":"869","article-title":"The surgical complications of Ehlers\u2010Danlos syndrome","volume":"62","author":"Freeman RK","year":"1996","journal-title":"Am. 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