Central Nervous System Vascular Complications in Children and Adults with Neurofibromatosis Type 1 (P06.014)

Objective: This study proposes to estimate the prevalence of central nervous system (CNS) vascular complications in the neurofibromatosis type 1 (NF1) population known to the Johns Hopkins Comprehensive Neurofibromatosis Center. Background Neurofibromatosis type 1 (NF1) affects approximately 1 in 3300 people. Though the neurological complications associated with NF1 are widely known, potentially harmful vascular effects have been largely undocumented. Due to the increasing number of incidental findings in the literature and our heightened clinical suspicion given the experience within our NF Center, a comprehensive study aimed at estimating the prevalence of widespread vasculopathy in the NF1 population is needed. Design/Methods: Retrospective chart review was undertaken for all patients with NF1 from our Center. Charts were screened for brain MRI scans either completed or formally reviewed at Johns Hopkins Hospital from 1980 until the present. MRI reports were reviewed for indication of a vascular anomaly. Results: 429 patients were screened for this study. 44 patients were found to have at least one CNS vasculopathy. The most common finding in patients >18 years were arteriovenous anomalies and ischemic stroke. The most common finding in patients Conclusions: Based on confirmed vasculopathy in 44 of 429 patients seen in a large neurofibromatosis clinic, we report the minimum prevalence rate of 10% for CNS vascular complications. The actual prevalence is likely higher, as only 41% of the clinic population underwent brain MRI. When controlled for age, the prevalence of CNS vascular complications within our population increases from 7% in childhood to 13% in adulthood. The majority of vascular complications seen were ischemic events or complications known to increase the likelihood of ischemic events in a population with a mean age of 36 years. This data indicates that patients with NF1 are at risk for vascular disease at a young age. Disclosure: Dr. Bergner has nothing to disclose. Dr. Kaas has nothing to disclose. Dr. Chance has nothing to disclose. Dr. Jordan has received personal compensation for activities with Berlin Heart. Dr. Blakeley has nothing to disclose.