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

Abstract

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.

Painful Swelling in a Case of Neurofibromatosis 1: An Intriguing Entity

“…The commonest vascular abnormalities associated with NF1 include renal artery stenosis (41%), cerebral vasculopathy (19%), and abnormalities of the abdominal aorta (12%). [ 3 4 ] However, our case had venous malformation with thrombosis in the right lower limb. Surgical treatment must be decided judiciously and individualized based on vasculopathy associated with NF1.…”

A Systematic Review of Diagnostic Modalities and Strategies for the Assessment of Complications in Adult Patients with Neurofibromatosis Type 1

“…Two studies involved the assessment OPGs [ 28 , 44 ], while two involved the assessment of extra-optic pathway gliomas [ 28 , 43 ]. Neurovascular complications [ 30 ], headache [ 26 ], UBOs [ 17 ], epilepsy [ 33 ], cognitive function [ 19 ], plexiform neurofibromas [ 21 , 62 ], and bone health [ 62 ] were assessed by one study each.…”

“…None were conducted in low-income or lower-middle-income countries. The high-income country group included Germany (14/51, 27.5%) [ 9 , 19 , 20 , 21 , 22 , 28 , 31 , 39 , 45 , 47 , 50 , 51 , 52 , 60 ], France (8/51, 15.7%) [ 35 , 40 , 44 , 46 , 53 , 56 , 63 , 64 ], United Kingdom (7/51, 13.7%) [ 26 , 29 , 30 , 32 , 43 , 49 , 58 ], other European countries (3/51 5.9%) [ 38 , 61 , 62 ], the United States (14/51, 27.5%) [ 16 , 18 , 23 , 27 , 33 , 34 , 36 , 37 , 41 , 42 , 48 , 54 , 57 , 59 ], and Japan (4/51, 7.8%) [ 24 , 25 , 55 , 65 ].…”

Endovascular embolization and needle aspiration of a life-threatening cervical hematoma due to a neurofibromatosis type 1–associated arteriovenous fistula: illustrative case

“…Neurofibromatosis type 1 (NF1)–associated vasculopathy, such as stenosis, dissection, aneurysm, arteriovenous fistula (AVF), or rupture of affected vasculature, has been reported. 1 , 2 Smooth muscle dysplasia and direct infiltration of neurofibroma tissue into vasculature are known as mechanisms of the vascular tissue fragility in patients with NF1. 1–7 As previously reported, an open surgical approach could risk uncontrollable bleeding from the vascular wall infiltration by a neurofibroma.…”

“… 1 , 2 Smooth muscle dysplasia and direct infiltration of neurofibroma tissue into vasculature are known as mechanisms of the vascular tissue fragility in patients with NF1. 1–7 As previously reported, an open surgical approach could risk uncontrollable bleeding from the vascular wall infiltration by a neurofibroma. 3 , 4 , 6 , 7 Therefore, in cases in which the bleeding source is considered strongly related to a neurofibroma, treatment strategies avoiding unnecessary damage of vascular structures should be considered.…”