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Thrombosis in Japanese patients with Fabry disease

Kouichi Utsumi1, Kae Ueda, Megumi Watanabe

  • 1Department of Internal Medicine (Divisions of Neurology, Nephrology, and Rheumatology) Nippon Medical School, Tokyo, Japan. utsumi@nms.ac.jp

Journal of the Neurological Sciences
|March 17, 2009
PubMed

Insights

Fabry disease, a genetic disorder, significantly increases the risk of thrombosis, affecting 15% of patients. Early enzyme replacement therapy is crucial for both males and females to prevent thrombotic events.

Area of Science:

  • Genetics
  • Metabolic Disorders
  • Neurology

Background:

  • Fabry disease is an X-linked lysosomal storage disorder caused by alpha-galactosidase A deficiency.
  • Accumulation of globotriaosylceramide may lead to vascular thrombosis.
  • Enzyme replacement therapy (ERT) is a recent treatment option.

Purpose of the Study:

  • To determine the incidence of thrombotic events in patients with Fabry disease.
  • To investigate the clinical manifestations of thrombosis in this population.

Main Methods:

  • A cohort of 65 patients with Fabry disease (39 families) was screened.
  • Patient history of thrombotic accidents was collected and analyzed.
  • Genetic mutations associated with classical Fabry disease were identified.

Main Results:

  • Ten out of 65 patients (15%) experienced thrombotic accidents, predominantly before age 45.
  • Thrombotic events included brain infarctions, recurrent thrombophlebitis, and central retinal artery occlusion.
  • All affected patients carried gene mutations for classical Fabry disease.

Conclusions:

  • Fabry disease presents a high incidence of thrombosis, impacting both hemizygous males and heterozygous females.
  • Early initiation of enzyme replacement therapy is recommended for all Fabry disease patients to mitigate thrombotic risks.

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