The cerebral vasculopathy of Fabry disease

J Neurol Sci. 2007 Jun 15;257(1-2):258-63. doi: 10.1016/j.jns.2007.01.053. Epub 2007 Mar 23.

Abstract

Fabry disease is an X-linked disorder affecting both males and females. It is associated with an increased risk of stroke in up to 4% of patients below 55 years of age in the general population. The cerebral vasculopathy consists of ischemic strokes involving large and small vessels. The neuronal accumulation of glycosphingolipids appears to have no clinical effect on the natural history of Fabry disease with the possible exception of some reported mild cognitive abnormalities. The pathogenesis of Fabry vasculopathy remains poorly understood but is associated with abnormal functional control of the vessel secondary to endothelial dysfunction, cerebral hyper-perfusion and a prothrombotic state with likely increased production of reactive oxygen species. These abnormalities are further modified by genetic and possibly other vascular risk factors. This vasculopathy illustrates the role of glycolipids in this and possibly other types of cerebral vasculopathies. Therapy is preventive relying on standard medical care and in particular on anti-platelet agents such as clopidogrel.

Publication types

  • Review

MeSH terms

  • Anticoagulants / therapeutic use
  • Brain / blood supply
  • Brain / pathology
  • Brain / physiopathology
  • Cerebral Arteries / metabolism
  • Cerebral Arteries / pathology*
  • Cerebral Arteries / physiopathology*
  • Cerebrovascular Disorders / metabolism
  • Cerebrovascular Disorders / pathology*
  • Cerebrovascular Disorders / physiopathology*
  • Endothelial Cells / metabolism
  • Endothelial Cells / pathology
  • Fabry Disease / metabolism
  • Fabry Disease / pathology*
  • Fabry Disease / physiopathology*
  • Glycosphingolipids / metabolism
  • Humans
  • Intracranial Thrombosis / etiology
  • Intracranial Thrombosis / physiopathology
  • Stroke / etiology
  • Stroke / physiopathology
  • Stroke / prevention & control

Substances

  • Anticoagulants
  • Glycosphingolipids