Abstract
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.
Highlights
Fabry disease is a rare X-linked inborn error of glycosphingolipid metabolism resulting from reduced production of lysosomal (α-galactosidase A (α-Gal A)) [1]
The understanding of the pathophysiology of the vasculopathy in Fabry disease is limited, as recently reviewed by Rombach et al [13]. the removal of glycosphingolipid from various cell types has been reported in studies investigating the efficacy of enzyme replacement therapy [14,15,16,17]
The cerebral involvement in Fabry disease can be visualized on conventional magnetic resonance imaging (MRI) as multiple lesions located in the deep white matter and in the subcortical grey matter of both hemispheres
Summary
Fabry disease is a rare X-linked inborn error of glycosphingolipid metabolism resulting from reduced production of lysosomal (α-galactosidase A (α-Gal A)) [1]. The Fabry Registry provides information on the worldwide largest cohort of patients with Fabry disease. There is a recommended schedule of assessments for the enrolled patients This schedule encompasses assessments of cerebrovascular and neurological manifestations of the included patients with Fabry disease. These databases provide only surrogate sources of information on the clinical outcome of therapy, the level of evidence is more conclusive than clinical experience with singular cases, and the two databases have already provided useful information on the baseline phenotype in women, information that has not been possible to obtain by other means in this rare disease [8, 12]
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