Research Papers: Pathology:

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

Paolo Colomba _, Carmela Zizzo, Riccardo Alessandro, Giuseppe Cammarata, Simone Scalia, Antonello Giordano, Maurizio Pieroni, Luigi Sicurella, Luisa Amico, Alessandro Burlina and Giovanni Duro

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Oncotarget. 2018; 9:7758-7762. https://doi.org/10.18632/oncotarget.23970

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Paolo Colomba1, Carmela Zizzo1, Riccardo Alessandro1,2, Giuseppe Cammarata1, Simone Scalia1, Antonello Giordano3, Maurizio Pieroni4, Luigi Sicurella5, Luisa Amico6, Alessandro Burlina7,* and Giovanni Duro1,*

1National Research Council, Institute of Biomedicine and Molecular Immunology "A. Monroy", Palermo, Italy

2Department of Biopathology and Medical Biotechnology, Biology and Genetics Section, University of Palermo, Palermo, Italy

3Department of Neurology, "R. Guzzardi" Hospital-ASP Ragusa, Vittoria, Italy

4Cardiovascular Department, St. Donato Hospital, Arezzo, Italy

5Complex Operative Unit of Neurology, St. Antonio Abate Hospital, Trapani, Italy

6Unit of Nephrology, Ospedali Riuniti Villa Sofia-Cervello, Palermo, Italy

7Neurological Unit, St. Bassiano Hospital, Bassano del Grappa, Italy

*These authors contributed equally to this work

Correspondence to:

Paolo Colomba, email: [email protected]

Keywords: fabry disease; multiple sclerosis; misdiagnosis

Received: July 28, 2017     Accepted: December 27, 2017     Published: January 05, 2018


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.

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