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

Mayo Clin Proc. 2002 Aug;77(8):861-3. doi: 10.4065/77.8.861.

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.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Aneurysm, Ruptured / diagnosis*
  • Aneurysm, Ruptured / etiology*
  • Aneurysm, Ruptured / surgery
  • Collagen / genetics*
  • Collagen Type III*
  • Ehlers-Danlos Syndrome / complications*
  • Ehlers-Danlos Syndrome / diagnosis
  • Ehlers-Danlos Syndrome / genetics*
  • Hemoperitoneum / diagnosis
  • Hemoperitoneum / etiology
  • Humans
  • Male
  • Mesenteric Artery, Superior*
  • Mutation / genetics*
  • Reoperation
  • Rupture, Spontaneous
  • Treatment Outcome
  • Vascular Surgical Procedures / methods

Substances

  • COL3A1 protein, human
  • Collagen Type III
  • Collagen