Research Papers: Pathology:
Fabry disease and multiple sclerosis misdiagnosis: the role of family history and neurological signs
Metrics: PDF 924 views | HTML 1599 views | ?
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
Paolo Colomba, email: firstname.lastname@example.org
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.
All site content, except where otherwise noted, is licensed under a Creative Commons Attribution 3.0 License.