Ehlers-Danlos Syndrome

  • Etiology: Vasculopathy of medium and large arteries due to connective tissue disorder of collagen with Type 4 being most commonly associated with vascular complications
  • Imaging: Affects medium and large arteries in any location
  • DDX:
  • Complications:
    — Vascular – vessel aneurysm, dissection, rupture, fistulae
    — Intestinal rupture
    — Uterine rupture
  • Treatment: Vascular lesions are traditionally treated conservatively as high mortality rates are reported after vascular reconstruction
  • Clinical: Hypermobility, skin extensibility, tissue fragility

Radiology Cases of Ehlers-Danlos Syndrome

CT of pseudoaneurysm in Ehlers-Danlos Syndrome
Axial CT with contrast of the abdomen shows an intimal flap in the superior mesenteric artery and a large retroperitoneal hematoma.