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.

Neurofibromatosis type 1 is not associated with subarachnoid haemorrhage

“…[3] Since neurofibromin is expressed in the endothelium, localized loss of heterozygosity or haploinsufficiency of NF1 could lead to excessive intimal thickening of the arterial wall. [36] Stenotic lesions of NF1 patients can be caused by intimal proliferation and fibromuscular dysplasia[37], but although unruptured IA walls often resemble intimal thickening, the initiation of aneurysm formation is characterized by loss of smooth muscle cells and elastic laminas[38]. NF1 is reported to associate with hypertension, an established risk factor for the IA disease.…”

Spontaneous Renal Artery Dissection in a Patient with Neurofibromatosis Type I

“…The renal artery is more frequently involved and presents as renovascular hypertension. Other vascular beds involved in NF-1 include the abdominal aorta, intercostal arteries, subclavian artery, vertebral artery, coronary arteries, and the internal carotid artery with aneurysm formation, dissection, and rupture [9–16]. The mechanisms of vascular involvement include smooth muscle dysplasia and direct vascular invasion by the neurofibromatous or ganglioneuromatous tissue.…”

“…Although stenosis or aneurysm formation has been previously reported in several vascular beds in patients with NF-1 including the renal arteries [9–16], to our knowledge SRAD associated with NF-1 has not been previously reported.…”

Successful Repair of a Vasculopathic Aneurysmal Brachial Artery in a Patient with Type 1 Neurofibromatosis

“…2 Some investigators recommend that a NF1 related aneurysm might be better treated by an endovascular approach (including stenting or embolization) or a hybrid procedure, rather than by surgery alone, providing the distal circulation is preserved. 9,14,[16][17][18] However, in our case an endovascular option was not considered because of the extreme tortuosity and fragility of the brachial artery, as any stress on the arterial wall, including the repeated trauma from a wire and stent deployment would have been likely to cause injury.…”