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Medicina (Buenos Aires)

versión impresa ISSN 0025-7680versión On-line ISSN 1669-9106


POLITEI, Juan Manuel. Stroke in Fabry disease: More than a simple stenosis. Medicina (B. Aires) [online]. 2006, vol.66, n.5, pp.467-471. ISSN 0025-7680.

The objective is to analyze the updated evidence on the physiopathological mechanisms that can generate cerebrovascular damage in Fabry disease. Fabry disease is the result of the deficiency of a-galactosidasa A, which causes pathological storage of glycosphingolipids, in different cells. Associated to renal and cardiac insufficiency, cerebrovascular complications can derive in the death of the patients. During a long time the only reported mechanism was the vascular occlusion by deposit of lipids at endothelial level. At the present time, other mechanisms are postulated. The arrival of enzyme replacement therapy has generated great expectation on the possibility of reversion of these alterations. Although the evidence is scarce and more long term studies are necessary, some reports demonstrate that after months, the treatment has managed to revert some of the mechanisms involved.

Palabras clave : stroke; Fabry disease; enzyme replacement therapy.

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