Natural history of gastrointestinal manifestations in vascular Ehlers-Danlos syndrome: A 17-year retrospective review.
Ehlers-Danlos syndrome, vascular type
gastroenterology
genetics
surgery
Journal
Journal of gastroenterology and hepatology
ISSN: 1440-1746
Titre abrégé: J Gastroenterol Hepatol
Pays: Australia
ID NLM: 8607909
Informations de publication
Date de publication:
May 2019
May 2019
Historique:
received:
02
04
2018
revised:
17
09
2018
accepted:
07
10
2018
pubmed:
26
10
2018
medline:
27
11
2019
entrez:
26
10
2018
Statut:
ppublish
Résumé
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. 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. 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. 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.
Sections du résumé
BACKGROUND AND AIM
OBJECTIVE
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
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
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
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.
Substances chimiques
COL3A1 protein, human
0
Collagen Type III
0
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
857-863Informations de copyright
© 2018 Journal of Gastroenterology and Hepatology Foundation and John Wiley & Sons Australia, Ltd.