Vascular Ehlers-danlos Syndrome and Intracranial Aneurysms: Cases from the Literature

Introduction: Vascular Ehlers-Danlos syndrome (vEDS) is caused by mutations in the gene COL3A1, which encodes for collagen type III. Normal collagen levels is approximately 5%, with several defects affecting medium and large vessels. The prevalence of intracranial aneurysms increases to up to 16% in this population. Life expectancy is estimated to be 48 years, and approximately 80% of patients experience at least one complication by age 40. We aimed to synthesize the world literature in characteristics of intracranial aneurysms (IA) in patients with vEDS.

Methods: We performed a scoping review according to the PRISMA Sc guidelines. Primary studies describing intracranial aneurysms in patients with vEDS and reporting sufficient clinical, surgical or radiological data were included.

Results: 32 patients with 47 IA from 23 studies were included. The mean age was 34.8 years and 62.5% were females. Diagnosis of vEDS was made clinically. It was confirmed with genetic or molecular tests in 40%. Mean age at first vascular complication was 30.2 years. Aneurysms diagnosis (Ruptured on unruptured) represented the first vascular event in 21% of cases. 56% of aneurysms were ruptured at presentation, and as consequence carotid-cavernous fistulas (CCF) were the initial presentation in 44% of patients. The mean size at diagnosis was 15.2 mm and the most common location was the intracranial ICA (62.8%). 34% of aneurysms were fusiform. 42.8% presented complication after open surgical intervention, while in the endovascular treatment complications were present in 36% of patients. Mortality for surgical intervention was 25% and for endovascular intervention was 10%.

Conclusion : Most patients in this review were young, however in most cases, IAs were not the first vascular event that they encountered. More than half of IAs were diagnosed at rupture, and presentation with CCF was common. Complications for surgical and endovascular treatment were higher than in sporadic aneurysms.