Neurovascular complications in adults with Neurofibromatosis type 1: A national referral center experience

• Published in: American journal of medical genetics. Part A Vol. 188; no. 10; pp. 3009 - 3015
• Main Authors: Sheerin, Una‐Marie, Holmes, Paul, Childs, Lucy, Roy, Amit, Ferner, Rosalie E.
• Format: Journal Article
• Language: English
• Published: Hoboken, USA John Wiley & Sons, Inc 01.10.2022; Wiley Subscription Services, Inc
• Subjects: Adult; Cardiovascular Abnormalities - complications; cerebrovascular disease; clinical neurology; Genetic disorders; genetics; Humans; Literature reviews; Magnetic Resonance Imaging; Morbidity; Neurofibromatosis; Neurofibromatosis 1 - complications; Neurofibromatosis 1 - diagnosis; Neurofibromatosis 1 - pathology; Neurofibromatosis type 1; neurogenetics; Neurological disorders; Patients; Recklinghausen's disease; Referral and Consultation; Skull; Stenosis; Tumors; Vascular Diseases; clinical neurology; Neurofibromatosis type 1; cerebrovascular disease; genetics; neurogenetics
• ISSN: 1552-4825; 1552-4833
• DOI: 10.1002/ajmg.a.62931

Neurofibromatosis type 1 (NF1) is associated with a range of vascular abnormalities. To assess the frequency, clinical and imaging spectrum of vascular complications in an adult cohort of NF1 patients, we reviewed 2068 adult NF1 patient records seen in our service between 2009 and 2019, to determine presence of vascular abnormalities, age at detection, associated symptoms and management. A literature review of the range of vascular abnormalities associated with NF1 was also undertaken. 1234 patients had magnetic resonance imaging cranial imaging. The frequency of vascular abnormalities associated with NF1 patients who had cranial imaging in this cohort was 3.5% (n = 43), the majority (n = 26, 60%) were symptomatic. Stroke and cerebral arterial stenosis were the commonest vascular complication. Eight patients (0.65%) had more than one type of vascular abnormality. One death due to a vascular complication was identified and significant morbidity resulted from other complications. We conclude that clinicians caring for patients with NF1 need to be cognizant that rapid onset of new neurological symptoms or signs may be the result of a vascular complication of NF1 and require urgent investigation and management, ideally within specialist teams who have experience of managing vascular complications of NF1.