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

Amit Pujari; Sherene Shalhub

doi:10.1016/j.jvscit.2024.101443

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

J Vasc Surg Cases Innov Tech. 2024 Feb 14;10(3):101443. doi: 10.1016/j.jvscit.2024.101443. eCollection 2024 Jun.

Authors

Amit Pujari¹, Sherene Shalhub²

Affiliations

¹ Division of Vascular Surgery, Department of Surgery, University of Washington School of Medicine, Seattle, WA.
² Division of Vascular and Endovascular Surgery, Department of Surgery, Oregon Health & Science University, Portland, OR.

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: COL5A1; Classic Ehlers-Danlos syndrome; Connective tissue disorder; Genetic arteriopathy; Iliac artery aneurysm; Iliac artery dissection.

Publication types

Case Reports