Vascular Ehlers-Danlos Syndrome with a Novel Missense Mutation in COL3A1: A Man in His 50s with Aortic Dissection after Interventional Treatment for Hemothorax as the First Manifestation

Intern Med. 2019 Dec 1;58(23):3441-3447. doi: 10.2169/internalmedicine.2983-19. Epub 2019 Aug 6.

Abstract

Type III collagen is the major protein in the walls of blood vessels and hollow organs; it is decreased in patients with vascular Ehlers-Danlos syndrome (EDS). A 52-year-old man was admitted for severe back pain, and right hemothorax was suspected by chest computed tomography. Immediately after embolization for bleeding bronchial artery, aortic dissection occurred and was treated conservatively in the intensive-care unit. Vascular EDS with a mutation of COL3A1 cDNA (c.3175G>A) was diagnosed. When vascular EDS is suspected, the patient should be treated prophylactically, and a genetic examination should be performed to confirm the diagnosis.

Keywords: COL3A1; angiography; aortic dissection; hemothorax; vascular Ehlers-Danlos syndrome.

Publication types

  • Case Reports

MeSH terms

  • Aortic Dissection / etiology*
  • Aortic Dissection / genetics
  • Collagen Type III / genetics*
  • Ehlers-Danlos Syndrome / diagnosis
  • Ehlers-Danlos Syndrome / genetics*
  • Embolization, Therapeutic / adverse effects
  • Genetic Testing
  • Hemorrhage / etiology
  • Hemorrhage / therapy
  • Hemothorax / therapy*
  • Humans
  • Male
  • Middle Aged
  • Mutation, Missense / genetics*
  • Tomography, X-Ray Computed

Substances

  • COL3A1 protein, human
  • Collagen Type III