Thrombosis in Japanese patients with Fabry disease

J Neurol Sci. 2009 Aug 15;283(1-2):83-5. doi: 10.1016/j.jns.2009.02.319. Epub 2009 Mar 12.


Fabry disease is an X-linked lysosomal storage disease resulting from deficient activity of the enzyme alpha-galactosidase (alpha-Gal) A. It has been postulated that the accumulation of globotriaosylceramide in the endothelial cells of blood vessels may lead to thrombosis of the brain and other tissues. Recently, enzyme replacement therapy (ERT) for Fabry disease is available. A high incidence of thrombotic accidents in Fabry disease has been postulated. However, a systemic study on thrombosis in cases of Fabry disease has not been undertaken. To clarify the incidence of thrombosis in Fabry disease, we screened 65 patients with Fabry disease (49 hemizygotes and 16 heterozygotes) from 39 unrelated Japanese families. We found that ten patients with Fabry disease (7 hemizygous males and 3 heterozygous females) had experienced thrombotic accidents, under 45-years-old in 8 cases. These 10 patients showed the gene mutations of classical Fabry disease. Nine of these thrombotic patients developed brain infarctions, one man who had the complication of recurrent thrombophlebitis, and the remaining woman showed central retinal artery occlusion and thrombophlebitis. We demonstrated a high incidence of thrombosis in Fabry disease (15%). ERT should be performed in patients not only in hemizygous males but also in heterozygous females and started at their early ages.

MeSH terms

  • Age Factors
  • Brain / blood supply
  • Brain / diagnostic imaging
  • Brain Infarction / blood
  • Brain Infarction / epidemiology
  • Brain Infarction / genetics
  • Fabry Disease / blood
  • Fabry Disease / epidemiology*
  • Fabry Disease / genetics
  • Family
  • Female
  • Genotype
  • Humans
  • Incidence
  • Intracranial Thrombosis / blood
  • Intracranial Thrombosis / epidemiology*
  • Intracranial Thrombosis / genetics
  • Japan
  • Leukocytes / metabolism
  • Male
  • Mutation
  • Radiography
  • Sequence Analysis, DNA
  • Sex Factors
  • alpha-Galactosidase / blood
  • alpha-Galactosidase / genetics
  • alpha-Galactosidase / metabolism


  • alpha-Galactosidase