Endovascular Repair of Carotid‐Cavernous Fistulas in Vascular Ehlers‐Danlos Syndrome Cases

INTRODUCTION/PURPOSE Vascular‐subtype Ehlers‐Danlos Syndrome (vEDS), a rare connective tissue genetic disorder caused by COL3A1 mutations leading to abnormal collagen type III production and subsequent skin and vascular fragility, is associated with spontaneous arterial dissection and rupture, along with a predisposition to develop carotid‐cavernous fistulas (CCFs). While advancements have improved the neuroendovascular procedure success rate in this population, complication rate and mortality rate remain high. Mitigating risk of procedures in these patients begins with understanding cerebrovascular abnormalities found in vEDS. This case series aims to: illustrate a range of clinical presentations of CCFs in vEDS patients, discuss underlying vEDS genetics, and demonstrate that both transvenous and transarterial endovascular approaches can lead to safe and successful CCF repair. MATERIALS/METHODS This is a retrospective case series including 2 patients found to have high‐flow CCFs who received endovascular coil embolization, one transarterially, and the other, transvenously. Serial imaging and physical examinations tracked CCF resolution and symptom improvement. Their medical histories and systemic physical exam findings had raised suspicion for collagen dysfunction, leading to COL3A1 testing and confirmation of vEDS. RESULTS ‐ CASE 1: A 21‐year‐old male with a history of bilateral anterior cruciate ligament (ACL) tears, prior esophageal perforation requiring stent placement, and post‐surgical hypertrophic scarring, presented with 4 months of left eye swelling, erythema, and proptosis. Examination revealed left eye proptosis but preserved cranial nerve function and visual acuity. CT scans revealed a left‐sided CCF. A subsequent angiogram confirmed this CCF and revealed ocular, cerebral, and brainstem venous reflux. The patient underwent transarterial coil embolization of the left CCF along with left cavernous internal carotid artery (ICA) takedown, with confirmation of persistent collateral supply to left anterior circulation. The patient's diffuse vascular fragility and CCF, as well as his history and physical examination, prompted genetic testing and eventual diagnosis of vEDS. ‐CASE 2: A 47‐year‐old female with a history of left CCF (s/p coil embolization 12 years prior, which, along with her physical exam findings at the time, prompted genetic testing leading to eventual vEDS diagnosis) developed acute‐onset right‐sided headache, a whooshing sound in the right ear and emesis, with examination revealing right‐sided cranial nerve III palsy and dilated pupil. CT scans revealed a new right‐sided direct CCF with trace subarachnoid hemorrhage and chronic ICA dissections. The patient underwent a two‐staged transvenous correction of the right CCF. Initially, transvenous coil embolization at the cavernous sinus via the inferior petrosal sinus was attempted but unsuccessful. The next day, a transvenous, transfacial approach, with concurrent transarterial balloon assistance at the ICA, led to successful coil embolization at the cavernous sinus, with complete resolution of the fistula. CONCLUSION These cases demonstrate how general physical exam findings, along with identification of a high‐flow CCF, can lead to vEDS diagnosis. When attempting CCF correction in suspected cases of vEDS, it may not be prudent to pursue a transarterial approach, so a complex transvenous approach may be necessitated. Conversely, if a transvenous approach cannot maintain the patency of the ICA, a transarterial approach may be beneficial.