A Case of Spontaneous Carotid-cavernous Fistula in a Patient with Vascular Ehlers-Danlos Syndrome

NMC Case Rep J. 2024 Nov 16:11:345-352. doi: 10.2176/jns-nmc.2024-0128. eCollection 2024.

Abstract

Vascular Ehlers-Danlos syndrome (vEDS) is a rare disorder that is characterized by vascular lesions mainly caused by vascular fragility, such as spontaneous carotid-cavernous fistula (sCCF). We experienced a patient who presented with sCCF but suffered postoperative multiple vascular arteriopathy complications caused by undiagnosed vEDS. A 39-year-old woman who had no physical and medical characteristics indicating vEDS was referred to our hospital due to sudden onset of headache and pulsatile tinnitus. Digital subtraction angiography revealed direct sCCF of the left internal carotid artery. Internal trapping with coils was performed using the bilateral transfemoral artery approach, and complete occlusion of the high-flow fistula was achieved. At the end of the procedure, left femoral angiography via the sheath revealed extravasation from the puncture site. Hemostasis using an Angio-Seal hemostasis device under proximal balloon protection standby was immediately performed, and complete hemostasis was achieved. Postoperative abdominal computed tomography (CT) revealed a huge retroperitoneal hematoma. To improve the patient's hypovolemic shock conditions, hypervolemic therapy was administered, and her vital signs normalized. Approximately 10 days after the treatment, abdominal CT revealed pseudoaneurysm at the bilateral puncture sites and dissection of the left external iliac artery. Based on the clinical events, vEDS was strongly suspected. The genetic test revealed collagen type III alpha 1 chain gene abnormality, which led to a definite diagnosis. The symptoms improved, and follow-up CT showed spontaneous healing of both vascular arteriopathies with no recurrence. Attention should be paid to the risk of vascular arteriopathy complications during the perioperative period in patients with vEDS.

Keywords: COL3A1 gene mutation; carotid-cavernous fistula; vascular Ehlers-Danlos syndrome.

Publication types

  • Case Reports