Diagnosis of Anderson-Fabry’s disease in over seventy-year-old women: description of two cases
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Anderson-Fabry’s disease (AFD) is a rare inborn X-linked sphingolipid storage disorder. Deficient activity of the lysosomal enzyme alpha-galactosidase A (α-GAL-A) 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 multi-organ 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.
Key wordsAnderson-Fabry’s disease cardiomyopathy geriatric age leukoencephalopathy
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