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Stroke and Fabry disease.

Miguel Viana-Baptista1

  • 1Departamento de Neurologia, CEDOC, Faculdade de Ciências Médicas, Universidade Nova de Lisboa, 1169-056 Lisbon, Portugal. mvianabaptista@fcm.unl.pt

Journal of Neurology
|November 1, 2011
PubMed
Summary
This summary is machine-generated.

Fabry disease (FD) is a rare metabolic disorder that can cause early-onset stroke. Screening for FD is crucial in stroke patients, even those without classic symptoms, to enable timely intervention.

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Area of Science:

  • Neurology
  • Genetics
  • Metabolic Disorders

Background:

  • Fabry disease (FD) is a rare inherited metabolic disorder with significant renal, cardiac, and cerebrovascular complications.
  • Stroke, both ischemic and hemorrhagic, occurs in FD patients at similar rates to the general population but typically at a younger age.
  • FD-specific vasculopathy, caused by glycosphingolipid deposition, contributes to diverse vascular phenotypes.

Purpose of the Study:

  • To review the prevalence of Fabry disease in stroke patients.
  • To highlight the importance of considering FD in stroke etiology, especially in cryptogenic or all-cause stroke.
  • To discuss the diagnostic neuroimaging features and therapeutic considerations for FD-related stroke.

Main Methods:

  • Literature review of studies on FD prevalence in stroke patients.
  • Analysis of neuroimaging findings associated with cerebrovascular involvement in FD.
  • Discussion of current and potential therapeutic strategies, including enzyme replacement therapy.

Main Results:

  • The prevalence of FD in stroke patients is comparable to other rare stroke causes.
  • Classic FD symptoms may be absent or subtle in stroke patients, necessitating broader screening.
  • Neuroimaging may reveal specific signs like white matter lesions, dolichoectasia, and the "pulvinar sign".

Conclusions:

  • Fabry disease should be considered in the differential diagnosis of all stroke types, including cryptogenic stroke.
  • Early detection and management of FD are vital for preventing recurrent vascular events and systemic complications.
  • Further research is needed to clarify FD's role in multifactorial stroke and identify potential stroke variants.