Fabry disease and multiple sclerosis misdiagnosis: the role of family history and neurological signs

Oncotarget
Paolo ColombaGiovanni Duro

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 theGLAgene, 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 hadGLAmutations 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.

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Citations

Nov 6, 2018·Insights Into Imaging·Sirio CocozzaArturo Brunetti
Jan 17, 2019·International Journal of Molecular Sciences·Rachael Eugenie TarlintonSvetlana Khaiboullina

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