La malattia di Fabry è una patologia determinata da un accumulo di globotriaosilceramide. La sindrome di Fabry è una malattia ereditaria trasmessa secondo la modalità dominante, legata al sesso e dovuta ad un deficit della alfagalattosidasi A, con un accumulo nei tessuti di triesosilceramide. La malattia di Fabry colpisce spesso il sesso maschile ed è caratterizzata da un angiocheratosi cutanea, con macchie cutanee livide localizzate sulle labbra, le guance, le ascelle e le falangi terminali. Si osservano inoltre trombosi vascolari, una neuropatia periferica e una distrofia della cornea con lesioni vascolari e cataratta. La prognosi è cattiva e la terapia sintomatica.
Quanto è diffusa la malattia di Fabry?
È la seconda come prevalenza tra le malattie da accumulo lisosomiale, dopo la malattia di Gaucher. La sua prevalenza varia da : 17.000 a a 1:117.000 nei maschi caucasici. È possibile tuttavia, che la prevalenza sia sottostimata.
Eziologia
E’ un disordine X-linked dovuto a una mutazione del gene GLA, codificante per un enzima (alfa-galattosidasi) responsabile del “riciclaggio” dei glicolipidi.
Quali sono i sintomi della malattia di Fabry?
I sintomi compaiono in età infantile o nell’adolescenza e comprendono:
Le manifestazioni renali si verificano in circa il 50% dei pazienti entro i 30-40 anni, con un’incidenza che aumenta con l’età. La maggior parte dei pazienti che sopravvive sviluppa insufficienza renale cronica e ipertensione. Progressivamente compaiono interessamento cardiaco (cardiopatia ipertrofica, coronaropatia, aritmie, valvulopatia, scompenso cardiaco) e cerebrali (attacchi ischemici transitori, ictus).
Diagnosi
La diagnosi è spesso molto difficile; si parte dall’osservazione clinica, ma la conferma viene data dal dosaggio dell’attività dell’enzima alfa-galattosidasi. È inoltre possibile effettuare la diagnosi genetica, con ricerca delle mutazioni del gene alfa-GAL A. La diagnosi si basa anche sulla storia familiare e sulla ridotta attività enzimatica nel leucociti plasmatici. La biopsia cutanea o renale può essere utile in casi selezionati e di mostrare i caratteristici depositi glicolipidici. Nel caso di riscontro di deficit enzimatico è utile l’analisi della mutazione genetica ( a meno che il genotipo familiare non sia già noto).
Come si cura la malattia di Fabry?
Oltre alla terapia di supporto per le numerose complicanze associate, è ora disponibile il trattamento con enzima ricombinante terapia di enzimatica con α-galattosidasi A ingegnerizzata in vitro, la cui efficacia a lungo termine è in fase di studio; il trattamento con enzima ricombinante riduce o elimina i depositi lipidici da molti tessuti, come rene, cuore, cute, endotelio vascolare; l’insufficienza renale però è irreversibile e l’impatto sulla sopravvivenza della terapia non è noto.
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