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

Yoneda, Akira; Okada, Ken-ichi; Ōkubo, H.; Matsuo, Masatsugu; Kishikawa, Hiroki; Naing, Banyar Than; Watanabe, Atsushi; Shimada, Takashi

doi:10.1159/000363373

Cited by 12 publications

(10 citation statements)

References 18 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: 65%

“…20,21 Notably, digestive events did not associate with CO3A1 variants leading to haploinsufficiency, consistent with previous findings. 16,[20][21][22][23][24][25][26] Male patients appear to be more exposed to GI manifestations than female patients. There is a higher male-to-female sex ratio in the GI manifestation group compared with the general population of vEDS patients.…”

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

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: 65%

Section: Discussionmentioning

confidence: 99%

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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“…Various GI manifestation of the vascular type of EDS (vEDS) has been described. Most of these relate to organ perforation and or bleeding [Pepin et al, ; Baichi et al, ; Diz et al, ; Omori et al, ; Anderson and Sweetser, ; Yoneda et al, ]. Familial cases of sigmoid perforation have also been described [Surgey et al, ].…”

Section: Eds and Abnormal Gi Tractmentioning

confidence: 99%

Gastrointestinal involvement in the Ehlers–Danlos syndromes

Fikree¹,

Chelimsky²,

Collins³

et al. 2017

American J of Med Genetics Pt C

105

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Current evidence suggests that an association exists between non-inflammatory hereditary disorders of connective tissue such as the Ehlers-Danlos syndromes (EDS) and gastrointestinal (GI) symptoms. Patients with EDS can present with both structural problems such as hiatus hernias, visceroptosis, rectoceles, and rectal prolapse as well as functional problems such as disordered gut motility. It has recently been demonstrated that patients with hypermobile EDS (hEDS) present with GI symptoms related to the fore and hind-gut and these patients frequently meet the criteria for functional gastrointestinal disorders such as functional dyspepsia and irritable bowel syndrome. Presence of GI symptoms in EDS patients influences their quality of life. Specific evidence based management guidelines for the management of GI symptoms in EDS patients do not exist and these patients are often treated symptomatically. There is, however, recognition that certain precautions need to be taken for those patients undergoing surgical treatment. Future studies are required to identify the mechanisms that lead to GI symptoms in patients with EDS and more specific treatment guidelines are required.

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“…Eleven patients died after the initial perforation, 4 patients died from vascular complications, 4 patients died from multiorgan failure or subsequent infection, 4 patients died from the anastomotic leak, 2 died from recurrent perforation, 1 patient died from evisceration, 1 patient died from splenic rupture, and 8 patients died from unspecified causes. Among the reported cases of “spontaneous” colonic perforation, 12 patients were documented as presenting with constipation [11,13,14,21,26,38,43,44].…”

Section: Discussionmentioning

confidence: 99%

Intestinal Perforation in Children as an Important Differential Diagnosis of Vascular Ehlers-Danlos Syndrome

2019

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Patient: Male, 6 Final Diagnosis: Colonic perforation secondary to vascular Ehlers Danlos Syndrome Symptoms: Abdominal pain • constipation Medication: — Clinical Procedure: Loop colostomy followed by total colectomy and ileostomy Specialty: Surgery Objective: Unusual clinical course Background: Ehlers-Danlos Syndrome (EDS) is a group of connective tissue disorders with heterogeneous clinical features associated with varying genetic mutations. EDS type IV, also known as vascular EDS (vEDS), is the rarest type but has fatal complications, including rupture of major vasculature and intestinal and uterine perforation. Intestinal perforation can be spontaneous or a consequence of long-standing constipation, a common symptom among patients with EDS. Case Report: We present a case of a 6-year-old boy with the previous diagnosis of vEDS who presented with colonic perforation from a stercoral ulcer. He underwent diagnostic laparoscopy and loop colostomy, with an uneventful postoperative course. Unfortunately, he developed a second colonic perforation 14 months after the initial episode and underwent total abdominal colectomy with end ileostomy. Conclusions: Intestinal perforation is a well-documented and devastating complication of vEDS. However, spontaneous intestinal perforation is extremely rare in a young child. Therefore, the diagnosis of vEDS should be included in the differential diagnosis if a child presents with intestinal perforation. There is no clear guideline available for surgical management of colonic perforation in patients with vEDS, but total abdominal colectomy appears to provide the best chance of preventing recurrent perforation.

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

Cited by 12 publications

References 18 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

Gastrointestinal involvement in the Ehlers–Danlos syndromes

Intestinal Perforation in Children as an Important Differential Diagnosis of Vascular Ehlers-Danlos Syndrome

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