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Pubblicato il 31 ottobre 2013

Terapia enzimatica sostitutiva in pazienti con malattia di Fabry

Enzyme replacement therapy in patients with Fabry disease: state of the art and review of the literature

Terapia enzimatica sostitutiva in pazienti con malattia di Fabry

Enzyme replacement therapy in patients with Fabry disease: state of the art and review of the literature

Eleonora Riccio, Ivana Capuano, Bianca Visciano, Cristina Marchetiello, Fortunato Petrillo, Antonio Pisani

Università Federico II, Cattedra di Nefrologia, Napoli

Corrispondenza a: Eleonora Riccio; Università Federico II; Cattedra di Nefrologia; Via Pansini, 5; 80128 Napoli; mail: elyriccio@libero.it

Abstract

La malattia di Anderson-Fabry è una patologia da accumulo lisosomiale legata al cromosoma X, dovuta ad un difetto dell’enzima alfa galattosidasi A, che provoca  accumulo di globotriaosilceramide in cellule e tessuti dell’organismo, responsabile di  una patologia multisistemica. Nel fenotipo classico il coinvolgimento cardiaco, renale e del sistema nervoso centrale hanno come risultato una ridotta aspettativa di vita. La corrente terapia causale per la malattia di Fabry è la terapia enzimatica sostitutiva (ERT): due differenti prodotti, Replagal (agalsidasi alfa) e Fabrazyme (agalsidasi beta), sono disponibili in commercio in Europa da almeno 10 anni e sono entrambi indicati per la terapia a lungo termine. Infatti, studi clinici, studi osservazionali e dati dei registri hanno fornito evidenza di sicurezza ed efficacia della ERT nell’indurre  miglioramento della qualità di vita globale dei pazienti trattati e nel modificare la progressione  del coinvolgimento d’organo. Pochi dati sono disponibili ad oggi sul confronto tra i due trattamenti e sul decorso clinico della malattia. Questo articolo riesamina l’evidenza di efficacia clinica delle due preparazioni enzimatiche disponibili e pone l’attenzione sulle prospettive emergenti di trattamento.

Abstract

Anderson-Fabry disease is a hereditary X-linked lysosomal storage disorder caused by a deficiency of the lysosomal enzyme alpha galactosidase A. It results in the accumulation of the glycosphingolypid globotrioasoyl ceramide (Gb3 in different cells and organs, resulting in a multi-system pathology including end organ failure. Patients with Fabry disease present clinically with cardiac, renal and neurological involvement; both life expectancy and quality of life are severely compromised. The current causal treatment for Fabry disease is enzyme replacement therapy (ERT), available since 2001. The two recombinant preparations available for ERT are agalsidase alfa (Replagal) and agalsidase beta (Fabrazyme). They have both been showed to have positive effect on kidney and heart, on the symptoms of pain and quality of life. Few data to date are available on comparison of the two preparations of ERT. This article reviews evidence of the literature and shows our personal experience about the safety and efficacy of ERT.

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Contenuti articolo
    release  1
    pubblicata il  31 ottobre 2013 
    Da

    Eleonora Riccio, Ivana Capuano, Bianca Visciano, Cristina Marchetiello, Fortunato Petrillo, Antonio Pisani

    Università Federico II, Cattedra di Nefrologia, Napoli

    Corrispondenza a: Eleonora Riccio; Università Federico II; Cattedra di Nefrologia; Via Pansini, 5; 80128 Napoli; mail: elyriccio@libero.it

    Parole chiave: Malattia di Fabry, Terapia enzimatica sostitutiva
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