A novel mutation in the vascular Ehlers-Danlos syndrome: a case presenting with colonic perforations

Demiroğullarι, Billur; Karabulut, Ramazan; Demirtola, Arzu; Karabulut, Bilge; Göl, İsmail Hakkı; Aybay, Cemalettin; Symoens, Sofie; Sönmez, Kaan; Başaklar, A. Can; Kale, Nuri

doi:10.1016/j.jpedsurg.2006.04.009

Cited by 21 publications

(19 citation statements)

References 11 publications

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“…Rapid and correct identification of vEDS after the occurrence of a GI manifestation is therefore very important as the timing of diagnosis may influence the prognosis of the disease . Notably, digestive events did not associate with CO3A1 variants leading to haploinsufficiency, consistent with previous findings …”

Section: Discussionsupporting

confidence: 88%

Natural history of gastrointestinal manifestations in vascular Ehlers–Danlos syndrome: A 17‐year retrospective review

Frank

Adham

Zinzindohoué

et al. 2018

J of Gastro and Hepatol

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Background and Aim Vascular Ehlers–Danlos syndrome (vEDS) is a rare connective tissue disorder due to heterozygous mutations in the COL3A1 gene with a dominant negative effect. Spontaneous bowel perforation and intra‐abdominal 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‐related complications in patients with vEDS. Methods 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. Results Of 133 patients, 41% had a history of GI manifestations with 112 events, mean 2.0 ± 1.3 events per patient. There was an earlier occurrence of GI events in men (P 0.008). Cumulative incidence was 58% for all patients, higher in men and in patients with splice‐site 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. Conclusions Vascular Ehlers–Danlos 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‐site variants. Complications of GI surgery are common and are related with tissue fragility/friability.

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Section: Discussionsupporting

confidence: 88%

Natural history of gastrointestinal manifestations in vascular Ehlers–Danlos syndrome: A 17‐year retrospective review

Frank

Adham

Zinzindohoué

et al. 2018

J of Gastro and Hepatol

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“…Though uncommon, vEDS is the most severe type. It accounts for 3–6% of all EDS cases [9]. The disease is caused by heterozygous germline mutations in the type III procollagen gene (COL3A1) [10, 11, 12, 13].…”

Section: Discussionmentioning

confidence: 99%

Spontaneous Colon Perforations Associated with a Vascular Type of Ehlers-Danlos Syndrome

Yoneda

Okada

Ōkubo

et al. 2014

Case Rep Gastroenterol

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Ehlers-Danlos syndrome, vascular type (vEDS) (MIM #130050) is an autosomal dominant disorder caused by mutation in the type III collagen gene, COL3A1, leading to fragility of blood vessels, bowel and uterus that leads to spontaneous rupture. We report a previously undiagnosed vEDS patient with bowel complications. A 20-year-old female patient was referred to our hospital with abdominal pain. Computed tomography showed notable dilatation of the sigmoid colon with intraperitoneal fluid. Laparotomy revealed dilatation of the sigmoid colon, breakdown of serosa and muscularis propria of the sigmoid colon with impending perforation, and intra-abdominal hemorrhage caused by breakdown of the mesenterium. Resection of the sigmoid colon with Hartmann's pouch and an end colostomy were performed. Physical examination showed joint hypermobility, translucent skin with venous prominence and facial structure abnormalities. Genetic analysis using cDNA extracted from the patient's fibroblasts by reverse transcriptase polymerase chain reaction direct sequencing showed a missense mutation within the triple helix region of COL3A1 (c.2150 G>A; Gly717Asp).

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“…This has led some to suggest that a subtotal colectomy with preservation of the rectum and construction of a permanent ileostomy, which virtually eliminates the risk of further perforation of intestine, is the correct treatment option [29,31,48]. In younger patients who do not accept or tolerate a permanent ileostomy, or if other factors make this surgical procedure technically impossible, another option is to make a two-stage operation in which the colon is initially resected with construction of a temporary ileostomy and closure of the rectum, and subsequent creation of an ileorectal anastomosis [5,31,57]. In cases of small bowel perforation, surgery is mandatory and can be performed by local resection and end-to-end anastomosis without increased risk of anastomotic leaks compared to the general population [33].…”

Section: Discussionmentioning

confidence: 99%

Gastrointestinal Surgery and Related Complications in Patients with Ehlers-Danlos Syndrome: A Systematic Review

Burcharth

Rosenberg

2012

Dig Surg

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Introduction: Ehlers-Danlos syndrome (EDS) is a rare inherited group of connective tissue diseases characterized by joint hypermobility, skin hyperextensibility and bruising tendency. Common features of patients with EDS include vascular and gastrointestinal perforations. The purpose of this systematic review is to address gastrointestinal diseases and the complications associated with surgical treatment of diseases relating to the gastrointestinal system in patients with EDS. Methods: PubMed search including the Medical Subject Heading (MeSH) terms ‘Ehlers-Danlos Syndrome’ and ‘Gastrointestinal Diseases’, and an Embase search including the Map Term to Subject Heading ‘Ehlers-Danlos Syndrome’ with ‘AND’ function of the keyword ‘Gastrointestinal’. Results: The literature search resulted in inclusion of 53 articles after application of eligibility criteria. The primary results drawn from the literature was that spontaneous ruptures of vessels and spontaneous perforations of the sigmoid colon occur in patients with EDS. Conclusion: Surgery in patients with EDS is associated with a high risk of complications, which is why preoperative indications should be considered. Optimal therapy for these patients includes the awareness that EDS is a systemic disease involving fragility, bleeding and spontaneous perforations from almost all organ systems. Often, a nonsurgical approach can be the best choice for these patients, depending on the condition.

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A novel mutation in the vascular Ehlers-Danlos syndrome: a case presenting with colonic perforations

Cited by 21 publications

References 11 publications

Natural history of gastrointestinal manifestations in vascular Ehlers–Danlos syndrome: A 17‐year retrospective review

Natural history of gastrointestinal manifestations in vascular Ehlers–Danlos syndrome: A 17‐year retrospective review

Spontaneous Colon Perforations Associated with a Vascular Type of Ehlers-Danlos Syndrome

Gastrointestinal Surgery and Related Complications in Patients with Ehlers-Danlos Syndrome: A Systematic Review

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