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Diagnosis of Anderson-Fabry's disease in over seventy-year-old women: description of two cases.

Abstract：

: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.

journal_name

Aging Clin Exp Res

journal_title

Aging clinical and experimental research

authors

Buechner S,Luzzi C,Mannucci M,Massi D,Borsini W

doi

10.1007/BF03324669

subject

Has Abstract

pub_date

2006-08-01 00:00:00

pages

340-3

issue

4

eissn

1594-0667

issn

1720-8319

pii

2306

journal_volume

18

pub_type

杂志文章

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