Iliac artery dissection and rupture in a patient with classic Ehlers-Danlos syndrome due to COL5A1 null variant

Abstract

This is a case of a 46-year-old woman who presented with right common iliac artery dissection preceded by a left common iliac artery dissection and rupture 6 years earlier. Both iliac arteries required repair. Based on her presentation, she met the clinical diagnostic criteria for vascular Ehlers-Danlos syndrome; however, the genetic workup demonstrated that she had classic Ehlers-Danlos syndrome due to a null variant in COL5A1, which is rarely associated with arteriopathy.

Keywords

• Classic Ehlers-Danlos syndrome
• COL5A1
• Connective tissue disorder
• Genetic arteriopathy
• Iliac artery aneurysm
• Iliac artery dissection