Anderson-Fabry disease in Austria

Wien Klin Wochenschr. 2003 Apr 30;115(7-8):235-40. doi: 10.1007/BF03040321.


Fabry disease is an X-linked inherited inborn error of glycosphingolipid catabolism. The deficiency of alpha-galactosidase A leads to the deposition of glycosphingolipids primarily in lysosomes of blood vessel cells. In classically affected hemizygotes clinical manifestations include pain in the extremities, vessel ectasia (angiokeratoma) in skin and mucous membranes, ophthalmological abnormalities, and hypohidrosis. As disease progresses there is renal, cardiac, cerebral and vascular involvement, with most patients experiencing renal insufficiency, cardiac hypertrophy or stroke. Many female carriers of Fabry disease also have symptoms. Recently available enzyme replacement therapy has the potential to control or even reverse disease progression. The present analysis reports on five Austrian families with Fabry disease, cared for by nephrologists in June 2002. Furthermore we discuss potential indications for enzyme replacement therapy in patients maintained on renal replacement therapy.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Biopsy
  • Chromosomes, Human, X
  • Diagnosis, Differential
  • Fabry Disease / diagnosis
  • Fabry Disease / drug therapy*
  • Fabry Disease / genetics*
  • Genes, Recessive / genetics
  • Genetic Carrier Screening
  • Humans
  • Isoenzymes / adverse effects
  • Isoenzymes / therapeutic use*
  • Kidney / pathology
  • Male
  • Middle Aged
  • Pedigree
  • Prognosis
  • Recombinant Proteins / adverse effects
  • Recombinant Proteins / therapeutic use
  • Renal Dialysis
  • Sex Chromosome Aberrations
  • alpha-Galactosidase / adverse effects
  • alpha-Galactosidase / therapeutic use*


  • Isoenzymes
  • Recombinant Proteins
  • alpha-Galactosidase
  • agalsidase beta