Vasc Spec Int.  2023 Jun;39(2):14. 10.5758/vsi.230017.

Von Gierke Disease (Glycogen Storage Disease Type I) and Life-Threatening Abdominal Aortic Aneurysm: A Case Report of an Extremely Rare Condition

• Pitoulias AG
• Bakr NA
• Kazemtash M
• Dahi F
• Schütz M
• Donas KP

• KMID: 2544403
• DOI: http://doi.org/10.5758/vsi.230017

Abstract

Von Gierke disease, also known as glycogen storage disease type I, co-existent with an abdominal aortic aneurysm (AAA), is an extremely rare combination of diseases that requires challenging therapeutic measures. We present, for the first time in literature, the case of a 62-year-old female with von Gierke disease who required open surgical repair of an AAA with challenging neck anatomy outside of instructions for use of endovascular repair. Even though the surgical risks for lifethreatening complications, such as pancreatitis, metabolic acidosis, and kidney failure, were high, the 6-month postoperative course was uneventful. Despite the invasiveness of the treatment, surgery to treat the AAA was safe and effective. Further data is needed to draw robust conclusions about the treatment of choice for those patients with diseases in co-existence with AAAs.

Keyword

Glycogen storage disease; von Gierke disease; Abdominal aortic aneurysm; Open repair