Ehlers-Danlos syndrome type IV and a novel mutation of the type III procollagen gene as a cause of abdominal apoplexy.

Abstract:

: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.

journal_name

Mayo Clin Proc

journal_title

Mayo Clinic proceedings

authors

Hassan I,Rasmussen TE,Schwarze U,Rose PS,Whiteman DA,Gloviczki P

doi

10.4065/77.8.861

keywords:

subject

Has Abstract

pub_date

2002-08-01 00:00:00

pages

861-3

issue

8

eissn

0025-6196

issn

1942-5546

pii

S0025-6196(11)62029-6

journal_volume

77

pub_type

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