Fabry Disease – Cerebrovascular Complications

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

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.