Incidental finding of cornea verticillata or lamellar inclusions in kidney biopsy: measurement of lyso-Gb3 in plasma defines between Fabry disease and drug-induced phospholipidosis.

INTRODUCTION: Therapy with cationic amphiphilic drugs (Amiodarone or hydroxychloroquine) may result in biochemically and ultrastructurally similar lipid inclusions in many cells also affected by Fabry disease (FD). In addition, it often results in similar clinical manifestations such as cornea verticillata. This may lead to a FD misdiagnosis, especially when a complete medical history is not available to the ophthalmologist confronted with cornea verticillata or to the pathologist examining a kidney biopsy. When enzymatic/genetic test or pathological studies are not conclusive, a specific biomarker may help clarify this dilemma. The plasma globotriaosylsphingosine (lyso-Gb3) assay has high sensitivity and specificity and is elevated above normal levels in FD. MATERIALS AND METHODS: We measured plasma lyso-Gb3 levels in male patients receiving Amiodarone or hydroxychloroquine and compared it with male patients with classic and late onset variant of FD. RESULTS: In all Fabry patients (classic and late onset variant) α-GalA activity was deficient in dried blood spot and plasma lyso-Gb3 was above normal levels. Patients on treatment with Amiodarone or hydroxychloroquine had normal values for α-GalA activity and lyso-Gb3 in plasma. CONCLUSIONS: Even when Amiodarone or hydroxychloroquine may decrease α-GalA activity in vitro or in cell culture, our results showed that in all patients lyso-Gb3 plasma levels remain normal with no evidence of reduction in α-GalA activity, confirming the specificity of this biomarker for the diagnosis of FD.

Isolated symptomatic lesions of the vertebral artery: cure after surgical repair.

Nine patients with uni-or bilateral stenosis of vertebral arteries, not associated with other lesions of supraaortic trunks are reported. They showed a vertebrobasilar insufficiency syndrome not due to other assessable causes. Seven of them underwent surgical treatment always as reimplantation of the vertebral into the subclavian artery. The procedure was unilateral also in cases with bilateral lesions. In all 7 patients a favourable result was obtained: 5 patients recovered completely and 2 showed a marked improvement. The study demonstrates that the surgical repair of symptomatic unilateral lesions of vertebral arteries is able to cure the vertebrobasilar insufficiency syndrome.

Arterial reconstruction of the limbs in poor run off conditions and surgical repair of vena cava with expanded PTFE (IMPRA-grafts).

Seventy eight arterial and venous reconstructions using expanded microporous PTFE (IMPRA-grafts) are reported. This prosthetic material has been employed, by itself or in addition to autogenous vein segments when the saphenous vein was not available or inadequate in length or quality. Long term results show that 83% of vascular repairs are patent up to 36 months post-operatively. Since the prosthesis has been used in vena cava reconstructions, in patients with severe impairment of the distal arterial tree and in some cases in whom previous surgical treatment had failed, these results are favorable and encouraging.