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The cerebral vasculopathy of Fabry disease

David F Moore1, Christine R Kaneski, Hasan Askari

  • 1Section of Neurology, University of Manitoba, Room GF543, 820 Sherbrook Street, Winnipeg, Manitoba, Canada R3C 4J5.

Journal of the Neurological Sciences
|March 17, 2007
PubMed

Insights

Fabry disease, an X-linked disorder, increases stroke risk in individuals under 55. Cerebral vasculopathy involves ischemic strokes, with pathogenesis linked to endothelial dysfunction and a prothrombotic state.

Area of Science:

  • Neurology
  • Genetics
  • Vascular Biology

Background:

  • Fabry disease is an X-linked disorder affecting males and females.
  • It presents an elevated risk of stroke in patients under 55, with cerebral vasculopathy involving large and small vessels.
  • Neuronal glycosphingolipid accumulation may contribute to mild cognitive issues.

Purpose of the Study:

  • To elucidate the pathogenesis of Fabry disease-associated cerebral vasculopathy.
  • To understand the role of endothelial dysfunction, cerebral hyper-perfusion, and prothrombotic states.
  • To explore the influence of genetic and vascular risk factors.

Main Methods:

  • Review of existing literature on Fabry disease and cerebral vasculopathy.
  • Analysis of proposed pathogenetic mechanisms including endothelial dysfunction and oxidative stress.
  • Examination of the role of glycosphingolipids in vascular health.

Main Results:

  • The pathogenesis involves abnormal vessel control due to endothelial dysfunction, cerebral hyper-perfusion, and a prothrombotic state.
  • Increased reactive oxygen species production is implicated.
  • Genetic and vascular risk factors modify these abnormalities.

Conclusions:

  • Fabry vasculopathy pathogenesis is complex, involving multiple vascular factors.
  • Glycolipids play a role in this and potentially other cerebral vasculopathies.
  • Preventive therapy includes anti-platelet agents like clopidogrel.

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