Primo studio epidemiologico e collaborativo italiano sulla malattia di Fabry

Translated title of the contribution: Fabry disease in Italy: First epidemiological and collaborative study

Roberta Ricci, Mario Castorina, Mariangela Di Lillo, Daniela Antuzzi, Andrea Frustaci, Rossella Parini, Francesca Menni, Francesca Furlan, Alberto Burlina, Alessandro Burlina, Susanna Catuogno, Orazio Gabrielli, Ilaria Burattini, Walter Borsini, Susanna Buchner, Sandro Ferriozzi, Claudio Spisni, Raffaele De Vito, Maia Di Rocco, Mario AricòGiuseppe Pistone, Anna Maria Bongiorno, Amelia Morrone, Catia Cavicchi, Enrico Zammarchi

Research output: Contribution to journalArticlepeer-review


The authors sought to define the prevalence of Fabry disease and to establish the incidence and its natural history in Italy. The aim of this study was to point out the first clinical signs and symptoms to perform an early diagnosis and hence to start a specific therapeutic treatment. Fabry disease is an inborn error of metabolism caused by the deficiency of the lysosomal enzyme α-galactosidase A. Fabry disease is a severe X-linked disorder presenting with a higher morbidity between the third and the fourth decade of life. Fabry disease may be confused with other diseases or completely misdiagnosed: its frequency is estimated worldwide to be 1:117 000. In Italy, 65 patients have been identified by several specialized institutions; age, sex, onset of first clinical signs and symptoms were analyzed and reported. In conclusion, this is the first Italian collaborative study that allows to delineate and point out the clinical signs of Fabry disease to perform a correct and early diagnosis. Enzyme replacement therapy is now available and its early beginning can prevent renal and cardiac failure, improve the quality of life and the expectation of life in these patients.

Translated title of the contributionFabry disease in Italy: First epidemiological and collaborative study
Original languageItalian
Pages (from-to)269-275
Number of pages7
JournalAnnali Italiani di Medicina Interna
Issue number4
Publication statusPublished - 2004

ASJC Scopus subject areas

  • Internal Medicine


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