Arterial complications of neurofibromatosis.

Type 1 neurofibromatosis (NF1) is the most frequently observed phacomatosis . but involvement of arterial trunks is uncommon. Expression depends on the localization and is nor easily related to the causal condition. Seven patients with type I neurofibromatosis developed vascular manifestati ons (table I) disclosed by hypertension (n = 2) digestive angina (n = 1), a rterial rupture (n = 1) and aneurysm of the subrenal aorta (n = 1). The diagnosis of NF1 was clear in 5 cases. in 2 cases, the diagnosis could only be established on the basis of pathology findings demonstrating dyspla sia of the media with voluminous periadventitial hypertrophic nerves (table II). All the large arteries can be involved in NF1. A complete vascular work-up is needed to identify multiple arterial localizations as found in two of ou r cases. Thoraco-abdominal stenosis was observed in 5 cases leading, in 2 cases, to coarctation with a hemodynamic and functional impact requiring aortic revas cularization. The most frequently observed localization involves the renal arteries: 3 of our patient had occlusive lesions of the renal arteries and in 2, aneurysms were observed. Three of our patients (including 2 of the pr eceding), had major occlusion of digestive arteries. Three other cases reve aled an aneurysm of inflammatory subrenal aorta, a rupture of the iliac int o the inferior vena cava and a rupture covered by a subclavian aneurysm. The indication for surgery depends on the arterial signs of associated comp lications (5 of our cases). In one case surgery was indicated to prevent ru pture of a splenic artery aneurysm and an aneurysm of the subrenal abdomina l aorta. Two cases were treated by exclusion (ilio-cava fistula) or excision (spleni c aneurysm); renal or digestive revascularization was performed with arteri al or venous autografts in young patients (3 cases). One extensive abdomina l coarctation was repaired with a PTFE graft as were the subclavian and sub renal aorta aneurysms. One patient with an ilio-cava fistula died from coll apsus Long-term results of the revascularizations are satisfactory with good cont rol of the hypertension and total regression of the digestive angina. Fibrodysplasia of the renal or digestive media occurring alone or thoraco-a bdominal coarctation should suggest NF1 and lead to a complete work-up to i dentify other arterial localizations. Patients should be followed regularly to prevent complications which in case of rupture can be life-threatening (J Mal Vase 1999; 24; 281-286).