Anderson-Fabry disease: a protean clinical behavior and a chance diagnosis
Amico, L.; Visconti, G.; Amato, A.; Azzolina, V.; Sessa, A.; Li Vecchi, M.
Journal of Nephrology 18(6): 770-772
2005
ISSN/ISBN: 1121-8428 PMID: 16358237 Document Number: 588175
Anderson-Fabry disease is a rare inborn X-linked glycosphingolipid storage disorder in which the deficient activity of the enzyme a-galactosidase A (m-gal A) leads to the progressive tissular accumulation of lipidic molecules which, in turn, cause a protean pattern of multi-organ disfunction. Enzyme replacement therapy has recently become available and has proved to be effective in controlling the disorder. We present and discuss the case of a family with this disease, with special attention to the variability of clinical features and the difficulty of a correct diagnosis.