David Bargiela1, Misha M Verkerk2, Ian Wee3, Kiera Welman4, Eugene Ng5, Andrew M T L Choong6. 1. SingVaSC, Singapore Vascular Surgical Collaborative, Singapore; Department of Physiology, Development and Neuroscience, University of Cambridge, UK. 2. SingVaSC, Singapore Vascular Surgical Collaborative, Singapore; Ear, Nose and Throat Department, St George's Hospital, London, UK. 3. SingVaSC, Singapore Vascular Surgical Collaborative, Singapore; Yong Loo Lin School of Medicine, National University of Singapore, Singapore. 4. SingVaSC, Singapore Vascular Surgical Collaborative, Singapore; Hervey Bay Hospital, Pialba, Queensland, Australia. 5. SingVaSC, Singapore Vascular Surgical Collaborative, Singapore; Department of Vascular Surgery, Westmead Hospital, Westmead, New South Wales, Australia. 6. SingVaSC, Singapore Vascular Surgical Collaborative, Singapore; Division of Vascular Surgery, National University Heart Centre, Singapore; Department of Surgery, Yong Loo Lin School of Medicine, National University of Singapore, Singapore. Electronic address: suramctl@nus.edu.sg.
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.
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 neurofibroblastomapatients 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.