Vascular type of Ehlers-Danlos syndrome in a patient with ruptured aneurysm of the splenic artery.
A 39-year-old woman presented with a ruptured aneurysm of the splenic artery. The postoperative course was complicated by poor wound healing. This, in combination with a history of easy bruising and joint hypermobility, made us consider a connective tissue disease as underlying cause. The vascular type of Ehlers-Danlos syndrome was diagnosed by identifying collagen III deficiency and the corresponding gene mutation in cultured fibroblasts from a skin biopsy.
Nanayakkara
P W B
PW
Department of Internal Medicine, VU University Medical Centre, Amsterdam, the Netherlands. p.nanayakkara@vumc.nl
van Bunderen
C C
CC
Simsek
S
S
Smulders
Y M
YM
Pals
G
G
D000328:Adult; D017542:Aneurysm, Ruptured / Q000209:etiology*; D004535:Ehlers-Danlos Syndrome / Q000150:complications* / Q000175:diagnosis; D005260:Female; D006801:Humans; D013157:Splenic Artery