Endovascular repair of direct carotid–cavernous fistula in Ehlers–Danlos type IV

Abstract

Ehlers-Danlos syndrome (EDS) type IV is a collagen vascular disease with an autosomal dominant inheritance caused by COL3A1 mutation. Patients with EDS type IV can present with organ rupture, spontaneous arterial dissections and ruptured aneurysms. Because of their propensity to form arterial dissections, aneurysms and rupture, they can develop carotidcavernous fistula (CCF) after minor trauma or spontaneously. In EDS, it has been reported that even conventional catheter diagnostic angiography may result in large artery dissections and vessel rupture. In addition, the treatment of CCF in EDS type IV can result in up to 59% mortality after initial treatment, of which 23% is attributed to direct complications of treatment. We present the case of a patient with EDS type IV who previously had spontaneous dissection and multiple pseudoaneurysms of both the iliac and femoral arteries and the distal abdominal aorta. Several years later the patient developed a direct type A CCF which was successfully treated with endovascular embolization using a transvenous approach with detachable coils. The literature pertaining to CCF in EDS type IV and its treatment is reviewed. BACKGROUND

Pathophysiology of carotid-cavernous fistulas in vascular Ehlers-Danlos syndrome: a retrospective cohort and comprehensive review

“…Sex was not reported for 7 (7.2%) individuals [ 21 , 40 ]. Median age at direct CCF diagnosis was 31.0 years, IQR [24.0–39.0] (one missing value [ 34 ]). Pepin et al reported an overall mean age of 30.9 years in 27 patients.…”

“…There were 5 Glycine missense variants [ 5 , 8 , 18 , 51 , 53 ] and 4 splice-site variants [ 8 , 29 , 45 , 51 ]. In the other patients, vEDS diagnosis was made either on relevant clinical examination, imaging and medical history [ 6 , 7 , 9 , 10 , 12 , 15 , 19 , 27 , 28 , 30 , 31 , 33 , 34 , 39 , 42 , 46 – 50 , 52 ], histological findings [ 6 , 9 , 24 , 27 , 32 , 43 , 44 , 47 ] or on fibroblast culture [ 8 , 15 , 36 , 38 , 40 , 43 , 44 ]. Imaging described marked tortuosity or dysplastic aspect or ectasia of the ICA segment in the neck [ 6 , 10 , 19 , 26 , 39 , 49 ], sometimes associated with an aneurysm rupture of the intracranial ICA segment into the CS [ 8 , 15 , 19 ].…”

Endovascular Management of Vascular Complications in Ehlers–Danlos Syndrome Type IV

“…A recent report showed more encouraging results, probably due to medical progress over time. Linfante et al presented a case of successful management of a carotid cavernous fistula in a patient with confirmed vEDS [ 19 ]. In another case of a ruptured subclavian artery aneurysm in a confirmed case of vEDS, Lida et al described how they managed the case successfully with transcatheter coil embolization [ 20 ].…”

A Case of Internal Carotid Artery Dissection Presenting Acute Intracranial Occlusion and Accompanied with Simultaneous Carotid Cavernous Fistula Treated by Thrombectomy

“…Angiogram demonstrated that dissection extended to the distal ICA occlusion; therefore, dissection involving the intracranial ICA may have resulted in acute occlusion and present a CCF, simultaneously. A study reported a CCF related to dissection of the ICA, 6) but there has been no case report on ICA-dissection-related occlusion complicated by a CCF. In the present case, concerning the CCF before aspiration, cavernous sinus was slightly visualized in the arterial phase, its shunt flow was small, and the CCF was asymptomatic.…”