Abstract
Fabry disease (FD) is an X-linked inherited lysosomal storage disorder caused by α galactosidase A (α-gal A) deficiency. Central nervous system involvement and chronic white matter lesions are observed in both FD and multiple sclerosis (MS), which can confound the differential diagnosis. We analyzed the GLA gene, which encodes α-gal A, in 86 patients with clinical and neuroradiological findings consistent with MS to determine whether they had FD. We identified four women initially diagnosed with MS who had GLA mutations associated with FD. Our results indicate that family history besides neurological findings should be evaluated in patients with an uncertain diagnosis of MS. Also the involvement of organs outside the central nervous system can support the FD diagnosis.
Highlights
Fabry disease (FD) is a rare lysosomal storage disorder
Fabry disease (FD) is an X-linked inherited lysosomal storage disorder caused by α galactosidase A (α-gal A) deficiency
Central nervous system involvement and chronic white matter lesions are observed in both FD and multiple sclerosis (MS), which can confound the differential diagnosis
Summary
Fabry disease (FD) is a rare lysosomal storage disorder. It is caused by mutations in the GLA gene, which encodes the enzyme α-galactosidase A (α-gal A), that result in α-gal A deficiency and the progressive accumulation of globotriaosylceramide and its derivatives in lysosomes [1]. This triggers a cascade of cellular events including in vascular endothelium [2]. The disease usually manifests in childhood or early adolescence with the emergence of angiokeratomas, corneal opacities (cornea verticillata), microalbuminuria and/or proteinuria, and symptoms that reflect the involvement of the autonomic nervous system including neuropathic pain, pain crises, and hypohidrosis [3].
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