Epidemiology of Fabry disease in patients in hemodialysis in the Madrid community

• Published in: Nefrología 2023-07, Vol.43 (4), p.435-441
• Main Authors: Elena Corchete Prats, Emilio González-Parra, Almudena Vega, Nicolás Macías, María Delgado, Milagros Fernández, Rafael Jesús Sánchez, Laura Álvarez, Ramón Jesús Miranda, Javier Vian, Virginia López, Evangelina Mérida, Mónica Pereira, David Sapiencia, Natalia Andrés, Patricia Muñoz, Yohana Gil, María Sánchez, Clara Cases, Beatriz Gil, Alicia García, Valeria Sainz, Simona Alexandru, Saúl Pampa, María López, José Carlos de la Flor, Patricia Nora Estrada, José Ramón Berlanga, Rocío Zamora, Rosa Sánchez, Laura Rodríguez-Osorio, Carmen Fraile, Fernando Caravaca-Fontán, Cristina Moratilla, Carmen Cabré, Karina Furaz, Luis Nieto, María Teresa Villaverde, Claudia Grisel Tapia, Santiago Cedeño, Sandra Castellano, Evaristo Valdés, Marta Ferreira, Pilar Martínez, Marta Sanz, Mercedes Sánchez, Francisco Ríos, Sofía Palomo, María Luisa Serrano, Ana Blanco, Laura Espinel, Fernando Tornero, Jose Antonio Herrero
• Format: Article
• Language: Spanish
• Subjects: Despistaje; Enfermedad de Fabry; España; Hemodiálisis; Lyso-Gl3; Madrid
• ISSN: 0211-6995

This study screened for Fabry disease (FD) in patients in hemodialysis (HD) in the region of Madrid (CAM) with a cross-sectional design to evaluate HD-prevalent patients, followed by a three-year period prospective design to analyze HD-incident patients. Inclusion criteria: patients older than 18 years on HD in the CAM, excluding patients diagnosed with any other hereditary disease with renal involvement different from FD, that sign the Informed Consent (IC). Exclusion criteria: underaged patients or not agreeing or not being capable of signing the IC. Results: 3470 patients were included, 63% males and with an average age of 67.9 ± 9.7 years. 2357 were HD-prevalent patients and 1113 HD-incident patients. For HD-prevalent patients, average time in HD was 45.2 months (SD 51.3), in HD-incident patients proteinuria was present in 28.4%. There were no statistical differences in plasmatic alpha-galactosidase A (α-GAL-A) activity or Lyso-GL-3 values when comparing HD-prevalent and HD-incident populations and neither between males and females. A genetic study was performed in 87 patients (2.5% of patients): 60 male patients with decreased enzymatic activity and 27 female patients either with a decreased GLA activity, increased Lyso-Gl3 levels or both. The genetic variants identified were: p.Asp313Tyr (4 patients), p.Arg220Gln (3 patients) and M290I (1 patient). None of the identified variants is pathogenic. Conclusions: 76% of HD Centers of the CAM participated in the study. This is the first publication to describe the prevalence of FD in the HD-population of a region of Spain as well as its average α-GAL-A-activity and plasmatic Lyso-Gl3 levels. It is also the first study that combines a cross-sectional design with a prospective follow-up design. This study has not identified any FD patient. Resumen: El objetivo del estudio ha sido realizar un mapa descriptivo de la enfermedad de Fabry (EF) en la Comunidad de Madrid, así como realizar un despistaje de la EF a todo paciente incidente durante un período de 3 años. Criterios de inclusión: Pacientes mayores de 18 años, excluyendo aquellos diagnosticados de cualquier otra enfermedad hereditaria con afectación renal diferente de la EF, que firmaran el consentimiento informado. Criterios de exclusión: pacientes menores de edad, no estar de acuerdo o no ser capaces de firmar el consentimiento informado. Resultados: Se incluyeron 3.470 pacientes (63% hombres), con una edad media de 67,9 ± 9,7 años, de los cuales 2.357 e