Vascular Ehlers‐Danlos Syndrome

Zemrani, Boutaina; McLeod, Elizabeth; Rogers, Elizabeth; Lawrence, Joanna; Feldman, Debi; Evans, Victoria; Shalley, Helen; Bines, Julie E

doi:10.1097/mpg.0000000000002074

Cited by 2 publications

(3 citation statements)

References 7 publications

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“…Although our patient had a relatively uncomplicated recovery after both surgeries, there are multiple reports of patients with vEDS after surgical repair of bowel perforation suffering catastrophic consequences from poor wound healing and wound dehiscence [8,10,13,21,37,46,47]. Several case reports note tissue fragility found during operations in patients with vEDS, as seen in our patient.…”

Section: Discussionsupporting

confidence: 48%

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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Section: Discussionsupporting

confidence: 48%

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

2019

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“…The patient was a 15-year-old boy with Ehlers-Danlos syndrome with history of chronic constipation who developed megacolon, intestinal perforation and post-operative multiple entero-cutaneous fistulas. The high output from fistula required long-term PN [30]. This is the first case of IF due to fistula in children; however, it could be argued that the true cause of IF was the severe dysmotility complicated by intestinal perforation and entero-cutaneous fistula [30].…”

Section: Congenital Hearth Defectsmentioning

confidence: 89%

“…The high output from fistula required long-term PN [30]. This is the first case of IF due to fistula in children; however, it could be argued that the true cause of IF was the severe dysmotility complicated by intestinal perforation and entero-cutaneous fistula [30].…”

Section: Congenital Hearth Defectsmentioning

confidence: 89%

Etiology and Management of Pediatric Intestinal Failure: Focus on the Non-Digestive Causes

et al. 2021

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Background: Intestinal failure (IF) is defined as reduction in functioning gut mass below the minimal amount necessary for adequate digestion and absorption. In most cases, IF results from intrinsic diseases of the gastrointestinal tract (digestive IF) (DIF); few cases arise from digestive vascular components, gut annexed (liver and pancreas) and extra-digestive organs or from systemic diseases (non-digestive IF) (NDIF). The present review revised etiology and treatments of DIF and NDIF, with special focus on the pathophysiological mechanisms, whereby NDIF develops. Methods: We performed a comprehensive search of published literature from January 2010 to the present by selecting the following search strings: “intestinal failure” OR “home parenteral nutrition” OR “short bowel syndrome” OR “chronic pseudo-obstruction” OR “chronic intestinal pseudo-obstruction” OR “autoimmune enteropathy” OR “long-term parenteral nutrition”. Results: We collected overall 1656 patients with well-documented etiology of IF: 1419 with DIF (86%) and 237 with NDIF (14%), 55% males and 45% females. Among DIF cases, 66% had SBS and among NDIF cases 90% had malabsorption/maldigestion. Conclusions: The improved availability of diagnostic and therapeutic tools has increased prevalence and life expectancy of rare and severe diseases responsible for IF. The present review greatly expands the spectrum of knowledge on the pathophysiological mechanisms through which the diseases not strictly affecting the intestine can cause IF. In view of the rarity of the majority of pediatric IF diseases, the development of IF Registries is strongly required; in fact, through information flow within the network, the Registries could improve IF knowledge and management.

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Vascular Ehlers‐Danlos Syndrome

Cited by 2 publications

References 7 publications

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

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

Etiology and Management of Pediatric Intestinal Failure: Focus on the Non-Digestive Causes

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