Prevalence of Fabry Disease in Young Patients with Stroke in Argentina

Fabry disease (FD) is an underdiagnosed cause of stroke in young adults, but the frequency of this association is largely unknown. We estimated the prevalence of FD in a nationwide cohort of young adults who had stroke and transient ischemic attack (TIA) in Argentina. This was a prospective, multice...

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Bibliographic Details
Published in:	Journal of stroke and cerebrovascular diseases Vol. 27; no. 3; pp. 575 - 582
Main Authors:	Reisin, Ricardo C., Mazziotti, Julieta, Cejas, Luciana León, Zinnerman, Alberto, Bonardo, Pablo, Pardal, Manuel Fernández, Martínez, Alejandra, Riccio, Patricia, Ameriso, Sebastián, Bendersky, Eduardo, Nofal, Pedro, Cairola, Patricia, Jure, Lorena, Sotelo, Andrea, Rozenfeld, Paula, Ceci, Romina, Casas-Parera, Ignacio, Sánchez-Luceros, Analía, Ricardo, Reisin, Julieta, Mazziotti, Luciana, León Cejas, Pablo, Bonardo, Diego, Miñarro, Manuel, Fernández Pardal, Tillard, Belén, Laura, De Francesco, Verónica, Tkachukt, Janina, Humanchio, Patricia, Riccio, Luciano, Sposatto, Francisco, Klein, Francisco, Muñoz, Eugenia, Gonzalez Toledo, Sebastián, Ameriso, Virginia, Pujol, Guillermo, Povedano, Alberto, Zinnerman, Alejandra, Martínez, Eugenia, Conti, Juan, Messina, Ignacio, Casas Parera, José, Tafur, Emilia, Gatto, Gabriel, Persi, Eduardo, Bendersky, Lorena, Montero, Alicia, Ateca, Ricardo, Allegri, Leonardo, Bartoloni, Mariana, Di Egidio, Celina, Ciardi, Alejandro, Alleva, Alberto, Rivero, Marina, Romano, Patricia, Cairola, LucerosAnalía, Sanchez, Susana, Meschengesier, Javier, Halfon, Pablo, Schubaroff, Cristian, Calandra, Martín, Pedersoli Luis, Laura, Zuccolo, Félix, Reynoso, Pedro, Nofal, Mónica, Leri, Guadalupe, Bruera, Andrea, Sotelo
Format:	Journal Article
Language:	English
Published:	United States Elsevier Inc 01-03-2018
Subjects:	Adolescent Adult Age of Onset alpha-Galactosidase - genetics Argentina - epidemiology Cerebral Hemorrhage - diagnosis Cerebral Hemorrhage - epidemiology cerebrovascular disease DNA Mutational Analysis Fabry disease Fabry Disease - diagnosis Fabry Disease - epidemiology Fabry Disease - genetics Female Genetic Predisposition to Disease Humans Ischemic Attack, Transient - diagnosis Ischemic Attack, Transient - epidemiology Male Middle Aged Mutation mutations Phenotype Prevalence Prospective Studies Risk Factors stroke Stroke - diagnosis Stroke - epidemiology Time Factors young Young Adult Argentina Fabry disease cerebrovascular disease mutations young stroke
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Summary:	Fabry disease (FD) is an underdiagnosed cause of stroke in young adults, but the frequency of this association is largely unknown. We estimated the prevalence of FD in a nationwide cohort of young adults who had stroke and transient ischemic attack (TIA) in Argentina. This was a prospective, multicenter study of stroke and FD in young adults (18-55 years) conducted in Argentina between 2011 and 2015. Patients were enrolled if they had had a TIA or an ischemic or hemorrhagic stroke within the previous 180 days. FD was diagnosed by measuring α-galactosidase A activity (males) and through genetic studies (females). We enrolled 311 patients (54% men, mean age: 41 years). Ischemic events occurred in 89% of patients (80% infarcts, 9% TIA) and hemorrhagic strokes in 11%. One female (.3% of the total group, 1% of the cryptogenic ischemic strokes) had the pathogenic mutation c.888G>A/p.Met296Ile /Exon 6 on the GAL gene. Her only other manifestation of FD was angiokeratoma. Eighteen females had nonpathogenic intronic variations: c.-10C>T, c.-12G>A, or both. Two patients had the nonpathogenic mutation D313Y, while a third had the likely benign mutation S126G. FD was identified in 1 patient (.3%) in this first Latin American study. The patient presented with a late-onset oligo-symptomatic form of the disease. A large number of nonpathogenic mutations were present in our cohort, and it is essential that they not be mistaken for pathogenic mutations to avoid unnecessary enzyme replacement treatment.
Bibliography:	ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23
ISSN:	1052-3057 1532-8511
DOI:	10.1016/j.jstrokecerebrovasdis.2017.09.045