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Cerebrovascular Complications

Renal ImpactCardiac Dysfunction
Cerebrovascular ComplicationsPain
AngiokeratomasHypohidrosis/Anhidrosis
Ophthalmologic FindingsHeat and Cold Intolerance
Gastrointestinal Manifestations 

Literature has documented that strokes and transient ischemic attacks are associated with Fabry disease.[1,2] Thrombosis of small arteries thickened by the vascular accumulation of GL-3 lipids makes Fabry patients vulnerable to early ischemic stroke.[3] Thrombus formation may also be enhanced in Fabry disease due to adhesion of neutrophils and monocytes to endothelial cell walls.[4] Hypertension associated with renal dysfunction may also increase the risk for hemorrhagic stroke.[3]

Other Fabry-related cerebrovascular signs and symptoms associated with Fabry disease may include:[1]

  • Hemiparesis
  • Vertigo
  • Diplopia
  • Seizures
  • Basilar artery ischema and aneurism
  • Labyrinthine disorders
  • Cerebral hemorrhage

For a list of articles related to cardiovascular complications associated with Fabry disease, click here.

References

1. Desnick RJ, Ioannou YA, Eng CM. Alpha-galactosidase A deficiency: Fabry disease. In: The Metabolic and Molecular Bases of Inherited Disease. New York, NY: McGraw Hill, 2001;3733-3774.

2. Grewal RP. Stroke in Fabry’s disease. J Neurol 1994;241:153-156.

3. Grewal RP, McLatchey SK. Cerebrovascular manifestations in a female carrier of Fabry’s disease. Acta Neurol Belg. 1992;92:36-40.

4. DeGraba T, Azhar S, Dignat-George F, et al. Profile of endothelial and leukocyte activation in Fabry patients. Ann Neurol. 2000;47:229-233.

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First Symptoms to Diagnosis

Data from the Fabry Registry confirms the large gap between the average age of symptoms onset (10.5) and diagnosis of Fabry disease (28.5). To learn more about the importance of the Fabry Registry click here.

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