An unusual presentation of Ehlers-Danlos syndrome vascular type with deep vein thrombosis: a case for multidisciplinary management

Am J Med Genet A. 2009 Feb 15;149A(4):698-701. doi: 10.1002/ajmg.a.32687.

Abstract

Ehlers-Danlos syndrome (EDS) vascular type typically presents with significant vascular complications such as rupture of blood vessels, gravid uterus, or intestinal perforation. We report on a 24-year-old female that presents with deep vein thrombosis found to be due to compression by a large posterior tibial artery pseudoaneurysm which ultimately leads to the patient's diagnosis. This case highlights the need for a multidisciplinary approach involving vascular surgery, internal medicine, genetics, and other health care providers for patients with vascular type EDS.

Publication types

  • Case Reports

MeSH terms

  • Aneurysm, False / complications
  • Aneurysm, False / diagnostic imaging
  • Aneurysm, False / pathology
  • Angiography
  • Collagen Type III / genetics
  • Ehlers-Danlos Syndrome / classification
  • Ehlers-Danlos Syndrome / complications*
  • Ehlers-Danlos Syndrome / genetics
  • Ehlers-Danlos Syndrome / therapy
  • Female
  • Humans
  • Magnetic Resonance Angiography
  • Mutation, Missense
  • Tibial Arteries
  • Tomography, X-Ray Computed
  • Venous Thrombosis / etiology*
  • Young Adult

Substances

  • COL3A1 protein, human
  • Collagen Type III