Fabry Disease and Early Stroke

الملخص EN

Fabry disease, an X-linked lysosomal storage disorder, results from deficient activity of the enzyme α-galactosidase A.

Affected males with the classic phoenotype have acroparaesthesias, hypohidrosis, and corneal opacities in childhood and develop renal failure, cardiac hypertrophy or strokes in the third to fifth decade of life.

Some female heterozygotes are asymptomatic, some as severely affected as males.

The natural history of Fabry patients includes transitory cerebral ischaemia and strokes, even in very young persons of both genders.

The mechanism is partly due to vascular endothelial accumulation of GL-3.

White matter lesions on MRI occur.

Both males and females can be safely treated with enzyme replacement; and thus screening for Fabry disease of young stroke populations should be considered.

There are, however, no hard data of treatment effect on mortality and morbidity.

The analyses of results from ongoing studirs will add to the decision on whether or not to screen young stroke patients for Fabry disease.

Finally, stroke prophylactic therapy should be used liberally in patients of both genders with verified Fabry disease.

This includes primary prevention such as lifestyle counseling, targeting blood pressure, managing atrial fibrillation, diabetes mellitus, hyperlipidaemia, and ASA.