Fabry disease

Handb Clin Neurol. 2015;132:231-48. doi: 10.1016/B978-0-444-62702-5.00017-2.


Fabry disease, an X-linked disorder of glycosphingolipids that is caused by mutations of the GLA gene that codes for α-galactosidase A, leads to dysfunction of many cell types and includes a systemic vasculopathy. As a result, patients have a markedly increased risk of developing ischemic stroke, small-fiber peripheral neuropathy, cardiac dysfunction and chronic kidney disease. Virtually all complications of Fabry disease are non-specific in nature and clinically indistinguishable from similar abnormalities that occur in the context of more common disorders in the general population. Recent studies suggested a much higher incidence of mutations of the GLA gene, suggesting that this disorder is under-diagnosed. However, some of the gene variants may be benign. Although the etiology of Fabry disease has been known for many years, the mechanism by which the accumulating α-D-galactosyl moieties cause this multi organ disorder has only recently been studied and is yet to be completely elucidated. Specific therapy for Fabry disease has been developed in the last few years but its role in the management of the disorder is still being investigated. Fortunately, standard 'non-specific' medical and surgical therapy is effective in slowing deterioration or compensating for organ failure in patients with Fabry disease.

Keywords: Angiokeratoma; X-linked; genetic disease; heart disease; sphingolipids; stroke.

Publication types

  • Review

MeSH terms

  • Fabry Disease* / genetics
  • Fabry Disease* / pathology
  • Fabry Disease* / physiopathology
  • Female
  • Humans
  • Male
  • Mutation / genetics
  • alpha-Galactosidase / genetics


  • GLA protein, human
  • alpha-Galactosidase