Concurrent splenic peliosis and vascular Ehlers-Danlos syndrome

Ann Vasc Surg. 2009 Mar;23(2):256.e1-4. doi: 10.1016/j.avsg.2008.02.004. Epub 2008 Sep 19.

Abstract

This case report describes concurrent splenic peliosis and vascular Ehlers-Danlos syndrome (EDS) in a 59-year-old male patient. After splenic rupture due to peliosis, the complicated postoperative period hinted at the possibility of vascular EDS. This diagnosis was confirmed by genetic testing, which revealed a novel point mutation in the COL3A1 gene, c.2545G-->C, leading to a codon encoding for arginine instead of glycine (p.Gly849Arg). In addition, a histological diagnosis of splenic peliosis could be established.

Publication types

  • Case Reports

MeSH terms

  • Abdominal Abscess / etiology
  • Aortic Aneurysm, Thoracic / etiology
  • Aortic Dissection / etiology
  • Catheter-Related Infections / etiology
  • Collagen Type III / genetics
  • Diaphragm / injuries
  • Ehlers-Danlos Syndrome / complications*
  • Ehlers-Danlos Syndrome / diagnosis
  • Ehlers-Danlos Syndrome / genetics
  • Genetic Testing
  • Humans
  • Intestinal Fistula / etiology
  • Male
  • Middle Aged
  • Pancreatic Fistula / etiology
  • Pancreatitis / etiology
  • Pedigree
  • Point Mutation
  • Splenectomy / adverse effects
  • Splenic Diseases / complications*
  • Splenic Diseases / pathology
  • Splenic Diseases / surgery
  • Splenic Rupture / etiology*
  • Splenic Rupture / surgery
  • Tomography, X-Ray Computed
  • Treatment Outcome

Substances

  • COL3A1 protein, human
  • Collagen Type III