Abstract: PO1365
A Popping Renal Artery
Session Information
- Genetic Diseases of the Kidneys: Non-Cystic - II
November 04, 2021 | Location: On-Demand, Virtual Only
Abstract Time: 10:00 AM - 12:00 PM
Category: Genetic Diseases of the Kidneys
- 1002 Genetic Diseases of the Kidneys: Non-Cystic
Author
- Portocarrero Caceres, Juan Pablo, Northwestern University Feinberg School of Medicine, Chicago, Illinois, United States
Introduction
The COL3A1 gene encodes the collagen type III alpha chain, which forms the helical conformation. A mutation on this genec causes vascular Ehlers-Danlos syndrome (v-EDS), a life-threatening disease characterized by arterial fragility, vascular dissection or rupture, and organ perforation are the most common presenting signs in adults with vEDS (1).
Case Description
A 25-year-old man with history of bicuspid aortic valve, shoulder dislocation, chronic hemoptysis presented with severe left flank pain and syncope. A CT scan revealed a right retroperitoneal hematoma and aneurysms on the right renal artery (Image 1). Differential diagnosis were fibromuscular dysplasia, small vessel vasculitis and segmental arterial mediolysis (SAM). An extensive rheumatologic and vasculitis workup was negative. A collagen vascular disease was considered due to the history of bicuspid aortic valve and shoulder dislocation, and genetic testing was ordered. He underwent an urgent aorta-to-right renal artery bypass, and ligation of the aneurysm. Postoperatively, he developed hypotension. Abdominal imaging showed a new aneurysm on the superior mesenteric artery.
Genetic testing results showed a COL3A1 c.593 A pathogenic variant, confirming vEDS. He now is treated with metoprolol succinate and spironolactone. His fathers genetic testing revealed possible mosaicism .
Discussion
vEDS is an uncommon but severe disease that needs a high degree of clinical suspicion. Patients usually present with unexplained pneumothorax, organ perforations and arterial ruptures. Little data exists about medical management, goals include mantaining low blood pressures (less than 120/80 mmHg). As well, patients should avoid contact sports and isometric exercises. Patients need constant imaging surveillance on the brain, neck, chest, abdominal and pelvic arteries.