Aging Clinical and Experimental Research

, Volume 18, Issue 4, pp 340–343 | Cite as

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

  • Susanne Buechner
  • Chiara Luzzi
  • Marco Mannucci
  • Daniela Massi
  • Walter Borsini
Case Report


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 words

Anderson-Fabry’s disease cardiomyopathy geriatric age leukoencephalopathy 


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Copyright information

© Springer Internal Publishing Switzerland 2006

Authors and Affiliations

  • Susanne Buechner
    • 1
  • Chiara Luzzi
    • 2
  • Marco Mannucci
    • 2
  • Daniela Massi
    • 3
  • Walter Borsini
    • 1
  1. 1.Department of Psychiatric and Neurological SciencesUniversity of FirenzeFirenzeItaly
  2. 2.Department of Geriatric SciencesUniversity of FirenzeFirenzeItaly
  3. 3.Department of Pathology, Hospital CareggiUniversity of FirenzeFirenzeItaly

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