Authors: Susanne Buechner Chiara Luzzi Marco Mannucci Daniela Massi Walter Borsini
Publish Date: 2013/07/25
Volume: 18, Issue: 4, Pages: 340-343
Abstract
AndersonFabry’s disease AFD is a rare inborn Xlinked sphingolipid storage disorder Deficient activity of the lysosomal enzyme alphagalactosidase A αGALA leads to progressive accumulation of glycosphingolipids within most visceral tissues and body fluids of affected patients provoking a clinical syndrome that includes nervous system renal cardiac ophthalmologic and cutaneous manifestations Also heterozygous women who had been considered as healthy carriers until recently often demonstrate clinical signs of multiorgan involvement In older women these manifestations are frequently attributed to other more common conditions of older age and a genetic disorder is rarely hypothesized We report the cases of two elderly women who had been diagnosed with AFD at the ages of 70 and 74 Although it is a rare disease AFD should be considered as a diagnostic hypothesis in women with a clinical history of cardiomyopathy and vascular encephalopathy appearing at ages 40–50 without identification of major vascular risk factors
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