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Prevalence of Fabry Disease in Young Patients with Stroke in Argentina

2017; Elsevier BV; Volume: 27; Issue: 3 Linguagem: Inglês

10.1016/j.jstrokecerebrovasdis.2017.09.045

1532-8511

Ricardo Reisin, Julieta Mazziotti, Luciana León Cejas, Alberto Zinnerman, Pablo Bonardo, Manuel Fernández Pardal, Alejandra Martínez, Patricia M. Riccio, Sebastián Ameriso, Eduardo Bendersky, Pedro Nofal, Patricia Cairola, Lorena Jure, Andrea Sotelo, Paula Rozenfeld, Romina Ceci, Ignacio Casas-Parera, Analía Sánchez‐Luceros, Reisin Ricardo, Julieta Mazziotti, León Cejas Luciana, Pablo Bonardo, Diego Antonio Reinaldos Miñarro, Fernández Pardal Manuel, Belén Tillard, De Francesco Laura, Tkachukt Verónica, Humanchio Janina, Riccio Patricia, Sposatto Luciano, Klein Francisco, Muñoz Francisco, Gonzalez Toledo Eugenia, Sebastián Ameriso, Virginia Pujol Lereis, Povedano Guillermo, Zinnerman Alberto, Alejandra Martínez, Conti Eugenia, Messina Juan, Casas Parera Ignacio, Tafur José, G Emilia, Persi Gabriel, Eduardo Bendersky, Lorena Montero, Ateca Alicia, Allegri Ricardo, Bartoloni Leonardo, Di Egidio Mariana, Celina Ciardi, Alleva Alejandro, Rivero Alberto, Marina Romano, Patricia Cairola, Sanchez LucerosAnalía, Meschengesier Susana, Halfon Javier, Schubaroff Pablo, Calandra Cristian, Pedersoli Luis Martín, Zuccolo Laura, Reynoso Félix, Nofal Pedro, Leri Mónica, Guadalupe Bruera, Lorena Jure, Andrea Sotelo,

Studies on Chitinases and Chitosanases

Background 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. Methods 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). Results 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. Conclusions 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. 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.