Abstract
Neurofibromatosis type 1 (NF1) is a genetic condition, which affects 1 in every 3000 births. Patients with NF1 are at increased risk of a variety of vascular abnormalities. This report presents the case of a 60-year-old male with NF1 who suffered a left external iliac rupture and a right pseudoaneurysm following angioplasty. In addition, these were further complicated by previously undiagnosed, bilateral phaeochromocytomas. The inherent weakness in vessel wall architecture found in NF1 coupled with the hypertension evident during and after the procedure contributed to haemorrhage and pseudoaneurysm formation. Caution must be taken in such patients when considering vascular intervention.
Highlights
Neurofibromatosis type 1 (Von Recklinghausen disease) is caused by a mutation in the gene responsible for the production of neurofibromin 1, which is involved in cell signalling
Neurofibromatosis type 1 (NF1) has an incidence of 1 in 3000 live births, with affected individuals having a 2.7 times increased risk of malignancy compared with the general population [1]
Patients with NF1 are known to be at increased risk of vascular lesions, actual incidence remains unknown [2]
Summary
Neurofibromatosis type 1 (Von Recklinghausen disease) is caused by a mutation in the gene responsible for the production of neurofibromin 1, which is involved in cell signalling. NF1 patients have an increased risk of vascular lesions, though the actual incidence remains unknown [2]. This increase in vascular lesions results in a higher risk of mortality from vascular disease in younger adults [3]. Magnetic resonance angiography (MRA) revealed mild atheromatous disease of both lower limbs, with a 6.5 cm occlusion of the left external iliac artery attributed as being the likely cause of his symptoms (Figure 1). He was admitted for elective angioplasty and stenting of the left external iliac artery
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