Fabry disease. A case report

Jožica Kotnik, F. Kotnik, R. J. Desnick

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Fabry disease is an under-recognized X-linked recessive lysosomal storage disorder resulting from the deficient activity of the enzyme α-galactosidase A (α-Gal A). The first case of Fabry disease in Slovenia was diagnosed in 1991. This 46 year-old male was referred for dermatologic evaluation of a purpura on his abdomen. He was being treated for proteinuria and cardiac symptoms. The diagnosis of angiokeratoma corporis diffusm (Fabry disease) was made clinically and confirmed by demonstration of deficient leukocyte α-Gal A activity. The patient subsequently developed cerebrovascular symptoms, coronary disease, and renal failure, and died from a recurrent myocardial infarction. Family studies identified several other affected males and carrier female relatives with this X-linked recessive disorder. This case illustrates the typical multi-manifestations of this inherited disease which now can be safely and effectively treated by enzyme replacement therapy. Early diagnosis is important for the most effective treatment of this disease.

Original languageEnglish
Pages (from-to)15-19
Number of pages5
JournalActa Dermatovenerologica Alpina, Panonica et Adriatica
Issue number1
StatePublished - Mar 2005


  • Angiokeratoma corporis diffusum
  • Enzyme replacement therapy
  • Fabry disease
  • X-linked recessive inheritance
  • α-galactosidase A activity


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