Neurofibromatosis Type 1: From Presentation and Diagnosis to Vascular and Endovascular Therapy

Abstract

Neurofibromatosis type 1, also called von Recklinghausen's disease, is an autosomal dominant disorder linked to chromosome 17, characterized by growth impairment of the neural crest cells (ectoderm) manifested by multiple neural tumors, cutaneous pigmentations, and Lisch nodules. Disease phenotype develops with time, making its penetrance almost complete by 5 years of age. Compression of the gastro-intestinal, urinary, or pulmonary tracts by visceral neurofibromas may generate serious complications. Neurofibromatosis type 1 is remarkable for its association with occlusive (stenoses) or aneurysmal arterial disease affecting predominantly the renal arteries and less often the abdominal aorta (middle aortic syndrome), and mesenteric and peripheral arteries. Appraisal of existing literature reveals that timely vascular intervention by way of conventional surgery and/or endovascular therapy may provide patients with effective and durable treatment. The far greater propensity for malignant connective/soft-tissue neoplasms and vascular disease in neurofibromatosis type 1, amid potential complications from the gastro-intestinal, urinary, and pulmonary tracts, leads to a significantly increased morbidity and decreased life expectancy. Neurofibromatosis type 1, from presentation and diagnosis to its treatment, is reviewed, with emphasis on vascular disease and its management with open vascular surgery and endovascular therapy.