Diagnosis of Anderson-Fabry's disease in over seventy-year-old women: description of two cases.
Anderson-Fabry's disease (AFD) is a rare inborn X-linked sphingolipid storage disorder. Deficient activity of the lysosomal enzyme alpha-galactosidase A (alpha-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.
Buechner
Susanne
S
Departments of Neurological Sciences, University of Florence, Viale Morgagni 85, 50134 Florence, Italy.
Luzzi
Chiara
C
Mannucci
Marco
M
Massi
Daniela
D
Borsini
Walter
W
D000367:Age Factors; D000368:Aged; D000369:Aged, 80 and over; D009202:Cardiomyopathies / Q000175:diagnosis / Q000473:pathology; D003937:Diagnosis, Differential; D000795:Fabry Disease / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology*; D005260:Female; D006801:Humans