Con sindrome di Gilbert viene indicata la patologia genetica a trasmissione autosomica recessiva che provoca iperbilirubinemia, in particolare ad accumularsi nel sangue è la bilirubina indiretta o non-coniugata

La bilirubina è un prodotto di scarto della degradazione dei globuli rossi, quando questi non sono più efficienti (la vita media di un globulo rosso è di 120 giorni) la milza li ricattura e li scompone per poterne riciclare le componenti. In circolo viene riversata la bilirubina che deve arrivare al fegato per essere coniugata così da diventare solubile ed essere eliminata.

Proprio un deficit dell’enzima che si occupa di coniugare la bilirubina -chiamato glucuronosiltransferasi- provoca l’accumulo della sostanza non coniugata nel sangue. La principale conseguenza di questo accumulo è l’ittero, la tendenza della pelle e delle sclere ad assumere un colore giallo.

Oltre all’ittero gli affetti possono in rari casi soffrire di stanchezza, dolori addominali e cefalee. Questi sintomi devono essere ricondotti al sovraccarico di lavoro cui è obbligato il fegato: l’enzima che si occupa di coniugare la bilirubina è infatti implicato anche in altre vi, tra le altre quelle per la degradazione di particolari farmaci. Per tali motivi, sebbene la sindrome sia considerata una patologia completamente benigna e buona parte dei portatori non presenti sintomi è consigliabile evitare l’eccesso di stress, alcool e farmaci come il paracetamolo e le statine.

Un altro importante determinante che porta la sindrome a manifestarsi è il digiuno. Questa correlazione permette di diagnosticare la sindrome senza ricorrere a test genetici. Al paziente viene richiesto di assumere cibo in quantità minime per un’intera giornata così da poter poi valutare i parametri del sangue ed individuare facilmente il problema.

Proprio per la sua natura di patologia genetica non esistono ad oggi cure efficienti che permettano di debellare la sindrome. I barbiturici come il fenobarbital vengono tuttavia utilizzati per attenuare l’effetto dell’ittero, unico elemento che potrebbe avere ripercussioni estetiche e sociali per il paziente.

Redazione | Nato a Como il 26 Febbraio 1994, frequento il terzo anno del corso di Laurea Magistrale in Medicina e Chirurgia dell'Università degli Studi di Milano-Bicocca. Diffido di chi crede che la Medicina sia esclusivamente Curativa e, nel mio piccolo, cerco di dimostrare il contrario anche in questa sede: it's not about curing, it's just about caring.

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