[Fabry disease in Italy: first epidemiologic and collaborative study].
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.
Ricci
Roberta
R
Dipartimento di Scienze Pediatriche Facoltà di Medicina e Chirurgia, Università Cattolica del Sacro Cuore di Roma. r.ricci@rm.unicatt.it
Castorina
Mario
M
Di Lillo
Mariangela
M
Antuzzi
Daniela
D
Frustaci
Andrea
A
Parini
Rossella
R
Menni
Francesca
F
Furlan
Francesca
F
Burlina
Alberto
A
Burlina
Alessandro
A
Catuogno
Susanna
S
Gabrielli
Orazio
O
Burattini
Ilaria
I
Borsini
Walter
W
Buchner
Susanna
S
Ferriozzi
Sandro
S
Spisni
Claudio
C
De Vito
Raffaele
R
Di Rocco
Maia
M
Aricò
Mario
M
Pistone
Giuseppe
G
Bongiorno
Anna Maria
AM
Morrone
Amelia
A
Cavicchi
Catia
C
Zammarchi
Enrico
E
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
D000519:alpha-Galactosidase