Predictors of outcome in a Spanish cohort of patients with Fabry disease on enzyme replacement therapy

• Published in: Nefrología 2021-11, Vol.41 (6), p.652-660
• Main Authors: Goicoechea, Marian, Gomez-Preciado, Francisco, Benito, Silvia, Torras, Joan, Torra, Roser, Huerta, Ana, Restrepo, Alejandra, Ugalde, Jessica, Astudillo, Daniela Estefania, Agraz, Irene, Lopez-Mendoza, Manuel, de Arriba, Gabriel, Corchete, Elena, Quiroga, Borja, Gutierrez, Maria Jose, Martin-Conde, Maria Luisa, Lopes, Vanessa, Ramos, Carmela, Mendez, Irene, Cao, Mercedes, Dominguez, Fernando, Ortiz, Alberto
• Format: Article
• Language: English
• Subjects: Chronic kidney disease Enzyme replacement therapy; Enfermedad de Fabry; Enfermedad renal crónica; Eventos renales; Fabry disease; Renal events; Tratamiento enzimático sustitutivo
• ISSN: 2013-2514; 2013-2514
• DOI: 10.1016/j.nefroe.2022.01.003

Fabry disease may be treated by enzyme replacement therapy (ERT), but the impact of chronic kidney disease (CKD) on the response to therapy remains unclear. The aim of the present study was to analyse the incidence and predictors of clinical events in patients on ERT. Multicentre retrospective observational analysis of patients diagnosed and treated with ERT for Fabry disease. The primary outcome was the first renal, neurological or cardiological events or death during a follow-up of 60 months (24–120). In 69 patients (42 males, 27 females, mean age 44.6±13.7 years), at the end of follow-up, eGFR and the left ventricular septum thickness remained stable and the urinary albumin: creatinine ratio tended to decrease, but this decrease only approached significance in patients on agalsidase-beta (242–128mg/g (p=0.05). At the end of follow-up, 21 (30%) patients had suffered an incident clinical event: 6 renal, 2 neurological and 13 cardiological (including 3 deaths). Events were more frequent in patients with baseline eGFR≤60ml/min/1.73m2 (log Rank 12.423, p=0.001), and this remained significant even after excluding incident renal events (log Rank 4.086, p=0.043) and in males and in females. Lower baseline eGFR was associated with a 3- to 7-fold increase the risk of clinical events in different Cox models. GFR at the initiation of ERT is the main predictor of clinical events, both in males and in females, suggesting that start of ERT prior to the development of CKD is associated with better outcomes. El objetivo de este estudio es realizar un mapa del tratamiento actual de la enfermedad de Fabry en España, analizando el efecto de diferentes factores en el desarrollo de eventos clínicos a largo plazo. Análisis observacional retrospectivo multicéntrico. Criterios de inclusión: pacientes diagnosticados y tratados de enfermedad de Fabry. Se recogieron datos generales en relación con el diagnóstico, síntomas y tipo mutación, tipo de tratamiento recibido, evolución renal y cardiológica. Durante un tiempo de seguimiento de 60 meses (24-120), se recogió el primer evento clínico tras el inicio de tratamiento sustitutivo enzimático definido como mortalidad, evento renal, cardiológico o neurológico. Se incluyeron 69 pacientes (42 H, 27 M) con una edad media de 44,6±13,7 años. A los cinco años de tratamiento, el FGe y la hipertrofia ventricular izquierda se mantuvieron estables, y la albuminuria tiende a disminuir, siendo este descenso más significativo en el grupo de pacie