Ehlers-Danlos syndrome type IV and a novel mutation of the type III procollagen gene as a cause of abdominal apoplexy.
Abdominal apoplexy is a clinical entity characterized by spontaneous intraperitoneal hemorrhage from rupture of a visceral vessel. We describe a 34-year-old man who presented with abdominal apoplexy due to rupture of an ileocolic aneurysm. Subsequent biochemical and genetic analysis confirmed the diagnosis of Ehlers-Danlos syndrome type IV based on abnormal production of type III procollagen and a novel mutation in the COL3A1 gene. Patients presenting with abdominal apoplexy should undergo a thorough examination so that the underlying vascular pathology can be identified.
Hassan
Imran
I
Division of Vascular Surgery, Mayo Clinic, Rochester, Minn 55905, USA.
Rasmussen
Todd E
TE
Schwarze
Ulrike
U
Rose
Peter S
PS
Whiteman
David A H
DA
Gloviczki
Peter
P
D000328:Adult; D017542:Aneurysm, Ruptured / Q000175:diagnosis* / Q000209:etiology* / Q000601:surgery; D003094:Collagen / Q000235:genetics*; D024061:Collagen Type III; D004535:Ehlers-Danlos Syndrome / Q000150:complications* / Q000175:diagnosis / Q000235:genetics*; D006465:Hemoperitoneum / Q000175:diagnosis / Q000209:etiology; D006801:Humans; D008297:Male; D017538:Mesenteric Artery, Superior; D009154:Mutation / Q000235:genetics*; D012086:Reoperation; D012422:Rupture, Spontaneous; D016896:Treatment Outcome; D014656:Vascular Surgical Procedures / Q000379:methods
C439971:COL3A1 protein, human; D024061:Collagen Type III; D003094:Collagen