title: [Fabry disease in Italy: first epidemiologic and collaborative study].
abstract: 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 alpha-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 1:117000. 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 life expectancy in these patients.
authors.affiliation: Dipartimento di Scienze Pediatriche Facoltà di Medicina e Chirurgia, Università Cattolica del Sacro Cuore di Roma. r.ricci@rm.unicatt.it
authors.forename: Roberta
authors.initials: R
authors.lastname: Ricci
authors.forename: Mario
authors.initials: M
authors.lastname: Castorina
authors.forename: Mariangela
authors.initials: M
authors.lastname: Di Lillo
authors.forename: Daniela
authors.initials: D
authors.lastname: Antuzzi
authors.forename: Andrea
authors.initials: A
authors.lastname: Frustaci
authors.forename: Rossella
authors.initials: R
authors.lastname: Parini
authors.forename: Francesca
authors.initials: F
authors.lastname: Menni
authors.forename: Francesca
authors.initials: F
authors.lastname: Furlan
authors.forename: Alberto
authors.initials: A
authors.lastname: Burlina
authors.forename: Alessandro
authors.initials: A
authors.lastname: Burlina
authors.forename: Susanna
authors.initials: S
authors.lastname: Catuogno
authors.forename: Orazio
authors.initials: O
authors.lastname: Gabrielli
authors.forename: Ilaria
authors.initials: I
authors.lastname: Burattini
authors.forename: Walter
authors.initials: W
authors.lastname: Borsini
authors.forename: Susanna
authors.initials: S
authors.lastname: Buchner
authors.forename: Sandro
authors.initials: S
authors.lastname: Ferriozzi
authors.forename: Claudio
authors.initials: C
authors.lastname: Spisni
authors.forename: Raffaele
authors.initials: R
authors.lastname: De Vito
authors.forename: Maia
authors.initials: M
authors.lastname: Di Rocco
authors.forename: Mario
authors.initials: M
authors.lastname: Aricò
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Pistone
authors.forename: Anna Maria
authors.initials: AM
authors.lastname: Bongiorno
authors.forename: Amelia
authors.initials: A
authors.lastname: Morrone
authors.forename: Catia
authors.initials: C
authors.lastname: Cavicchi
authors.forename: Enrico
authors.initials: E
authors.lastname: Zammarchi
mesh_terms: D000293:Adolescent; D000328:Adult; D000465:Algorithms; D003937:Diagnosis, Differential; D000795:Fabry Disease / Q000175:diagnosis* / Q000188:drug therapy / Q000201:enzymology / Q000453:epidemiology*; D005260:Female; D006801:Humans; D007558:Italy / Q000453:epidemiology; D008297:Male; D000519:alpha-Galactosidase / Q000235:genetics / Q000627:therapeutic use
chemical_list: D000519:alpha-Galactosidase