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 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.
| Original language | Italian |
|---|---|
| Pages (from-to) | 269-275 |
| Number of pages | 7 |
| Journal | Annali Italiani di Medicina Interna |
| Volume | 19 |
| Issue number | 4 |
| Publication status | Published - 2004 |
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ASJC Scopus subject areas
- Internal Medicine
Cite this
Primo studio epidemiologico e collaborativo italiano sulla malattia di Fabry. / Ricci, Roberta; Castorina, Mario; Di Lillo, Mariangela; Antuzzi, Daniela; Frustaci, Andrea; Parini, Rossella; Menni, Francesca; Furlan, Francesca; Burlina, Alberto; Burlina, Alessandro; Catuogno, Susanna; Gabrielli, Orazio; Burattini, Ilaria; Borsini, Walter; Buchner, Susanna; Ferriozzi, Sandro; Spisni, Claudio; De Vito, Raffaele; Di Rocco, Maia; Aricò, Mario; Pistone, Giuseppe; Bongiorno, Anna Maria; Morrone, Amelia; Cavicchi, Catia; Zammarchi, Enrico.
In: Annali Italiani di Medicina Interna, Vol. 19, No. 4, 2004, p. 269-275.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Primo studio epidemiologico e collaborativo italiano sulla malattia di Fabry
AU - Ricci, Roberta
AU - Castorina, Mario
AU - Di Lillo, Mariangela
AU - Antuzzi, Daniela
AU - Frustaci, Andrea
AU - Parini, Rossella
AU - Menni, Francesca
AU - Furlan, Francesca
AU - Burlina, Alberto
AU - Burlina, Alessandro
AU - Catuogno, Susanna
AU - Gabrielli, Orazio
AU - Burattini, Ilaria
AU - Borsini, Walter
AU - Buchner, Susanna
AU - Ferriozzi, Sandro
AU - Spisni, Claudio
AU - De Vito, Raffaele
AU - Di Rocco, Maia
AU - Aricò, Mario
AU - Pistone, Giuseppe
AU - Bongiorno, Anna Maria
AU - Morrone, Amelia
AU - Cavicchi, Catia
AU - Zammarchi, Enrico
PY - 2004
Y1 - 2004
N2 - 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.
AB - 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.
KW - Fabry disease
KW - Italian epidemiological study
KW - Natural history
UR - http://www.scopus.com/inward/record.url?scp=14544297058&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=14544297058&partnerID=8YFLogxK
M3 - Articolo
C2 - 15678707
AN - SCOPUS:14544297058
VL - 19
SP - 269
EP - 275
JO - Annali Italiani di Medicina Interna
JF - Annali Italiani di Medicina Interna
SN - 0393-9340
IS - 4
ER -