How Neurologists Can Help

Neurologists can play a critical role in the detection of Fabry disease. By recognizing the early signs and symptoms, neurologists have the opportunity to identify Fabry disease earlier in the disease course. A geneticist can help establish a definitive diagnosis and provide information on disease management.

Premature stroke

Fabry disease patients may experience stroke at an unusually young age. Data from 2446 patients enrolled in the Fabry Registry was analyzed and reported the median age of first stroke was 39.0 years and 45.7 years in male and female Fabry patients respectively.1 An MRI study of Fabry patients performed in 1998 found detectible MRI lesions in a patient as young as 27 years old.2 During a screening of cryptogenic stroke patients 18-55 years old, 1.2% were confirmed to have previously undiagnosed Fabry disease.3 These findings suggest that neurologists may play a key role in identifying Fabry patients.

Cerebrovascular infarct in Fabry disease


Cerebral white matter hyperintensities, lacuna and microbleeds. Used with permission from Germain O. Journal of Rare Diseases 2010, 5:30

Accumulation of substrate in vascular endothelium

 Electron micrograph image shows deficiency of cellular accumulation of the substrate GL-3 in the the renal endothelium of a Fabry patient.

Electron micrograph showing the vascular endothelium of a small vessel from a patient with Fabry disease. Progressive accumulation of substrate leads to ischemia and eventual vessel infarction. Used with permission from R.J. Desnick, MD, Phd.

More about the causes of stroke in Fabry disease » 

Additional neurological findings

In addition to premature stroke, patients with Fabry disease may present with:

  • Transient ischemic attacks
  • Hearing loss, tinnitus
  • Vertigo, dizziness
  • Nystagmus
  • Acroparesthesias (“burning” pain in the hands and feet). Learn more
  • Heat/cold and exercise intolerance. Learn more

Suggested readings on neurological complications » 

More on neurological manifestations in Fabry disease » 

Other clinical manifestations

  • Patients with Fabry disease may present with additional signs and symptoms such as:
  • Progressive and/or unexplained chronic kidney disease. Learn more
  • Premature cardiac disease. Learn more
  • Corneal and lenticular abnormalities (seen through slit lamp; generally does not affect vision). Learn more
  • Angiokeratomas (reddish-purple skin lesions that do not blanch with pressure). Learn more


1. Sims K, Politei J, Banikazemi M, Lee P. Strokes in Fabry disease frequently occur before diagnosis and in the absence of other clinical events. Natural history data from the Fabry Registry. Stroke 2009;40:788-94.

2. Crutchfield K, Patronas N, Dambrosia J, Frei K, Banerjee T, Barton N, et al. Quantitative analysis of cerebral vasculopathy in patients with Fabry disease. Neurology 1998;50:1746-9.

3. Rolfs A, Bottcher T, Zschiesche M, Morris P, Winchester B, Bauer P, et al. Prevalence of Fabry disease in patients with cryptogenic stroke: a prospective study. Lancet 2005;366(9499):1794-6.