The endovascular management of neurofibromatosis-associated aneurysms: A systematic review

Abstract

Background: Neurofibroblastoma (NF) or Von Recklinghausen disease, is an autosomal dominant disorder affecting one in 3000 individuals. Cardinal features of NF include multiple café-au-lait macules, benign neurofibromas, and iris hamartomas. Albeit less common, vascular lesions of medium and large-sized arteries and veins are a well-recognized complication, which can lead to fatal consequences such as rupture.

Method: A systematic review was conducted as per the Preferred Reporting Instructions for Systematic Reviews and Meta-analysis (PRISMA) guidelines utilizing PubMed, EMBASE, and Cochrane databases.

Results: There were 59 articles identified involving 66 patients (mean age 44.3 ± 30 years), of which 89% had neurofibromatosis type 1. There were 63.6% of patients who presented with aneurysm rupture, 33.3% presented with intact symptomatic aneurysms, and 3.1% presented with intact asymptomatic aneurysms. Anatomically, 4.5% of patients suffered from intracranial aneurysms; 12.1% suffered from visceral artery aneurysms (including hepatic, superior mesenteric, gastroduodenal and renal arteries), and other patients suffered from aneurysms within the chest, abdomen, pelvis, upper limbs and neck. Amongst the various endovascular procedures, coiling was performed in 83.3% of cases. There were 12 covered stents employed in 10 patients (18.2%), of which 7 were balloon-expandable grafts; 2 were self-expandable graft; 3 were not mentioned. The rates of major and minor complications were 15% and 6% respectively, with 4 cases (6%) of perioperative death. On a mean follow-up of 15 months (range 1.5-72 months), two patients developed a distant vascular lesion from the treated lesion.

Conclusion: Endovascular management is safe and effective even in hemodynamically unstable neurofibroblastoma patients at all ages. Vascular tree screening should be conducted in clinically suspicious patients to prevent fatal aneurysmal complications. A formal meta-analysis could not be performed due to the lack of randomized controlled trials.

Keywords: Aneurysm; Endovascular surgery; Neurofibroblastoma; Vasculopathy; Von Recklinghausen.