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 journalArticle

1 Citation (Scopus)

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 languageItalian
Pages (from-to)269-275
Number of pages7
JournalAnnali Italiani di Medicina Interna
Volume19
Issue number4
Publication statusPublished - 2004

Fingerprint

Fabry Disease
Italy
Epidemiologic Studies
Signs and Symptoms
Early Diagnosis
Galactosidases
Enzyme Replacement Therapy
Inborn Errors Metabolism
Diagnostic Errors
Natural History
Age of Onset
Renal Insufficiency
Heart Failure
Quality of Life
Morbidity
Incidence
Enzymes
Therapeutics

ASJC Scopus subject areas

  • Internal Medicine

Cite this

Ricci, R., Castorina, M., Di Lillo, M., Antuzzi, D., Frustaci, A., Parini, R., ... Zammarchi, E. (2004). Primo studio epidemiologico e collaborativo italiano sulla malattia di Fabry. Annali Italiani di Medicina Interna, 19(4), 269-275.

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 journalArticle

Ricci, R, Castorina, M, Di Lillo, M, Antuzzi, D, Frustaci, A, Parini, R, Menni, F, Furlan, F, Burlina, A, Burlina, A, Catuogno, S, Gabrielli, O, Burattini, I, Borsini, W, Buchner, S, Ferriozzi, S, Spisni, C, De Vito, R, Di Rocco, M, Aricò, M, Pistone, G, Bongiorno, AM, Morrone, A, Cavicchi, C & Zammarchi, E 2004, 'Primo studio epidemiologico e collaborativo italiano sulla malattia di Fabry', Annali Italiani di Medicina Interna, vol. 19, no. 4, pp. 269-275.
Ricci R, Castorina M, Di Lillo M, Antuzzi D, Frustaci A, Parini R et al. Primo studio epidemiologico e collaborativo italiano sulla malattia di Fabry. Annali Italiani di Medicina Interna. 2004;19(4):269-275.
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. / Primo studio epidemiologico e collaborativo italiano sulla malattia di Fabry. In: Annali Italiani di Medicina Interna. 2004 ; Vol. 19, No. 4. pp. 269-275.
@article{1f1f30efb4e943a48b663c14df545ccc,
title = "Primo studio epidemiologico e collaborativo italiano sulla malattia di Fabry",
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.",
keywords = "Fabry disease, Italian epidemiological study, Natural history",
author = "Roberta Ricci and Mario Castorina and {Di Lillo}, Mariangela and Daniela Antuzzi and Andrea Frustaci and Rossella Parini and Francesca Menni and Francesca Furlan and Alberto Burlina and Alessandro Burlina and Susanna Catuogno and Orazio Gabrielli and Ilaria Burattini and Walter Borsini and Susanna Buchner and Sandro Ferriozzi and Claudio Spisni and {De Vito}, Raffaele and {Di Rocco}, Maia and Mario Aric{\`o} and Giuseppe Pistone and Bongiorno, {Anna Maria} and Amelia Morrone and Catia Cavicchi and Enrico Zammarchi",
year = "2004",
language = "Italian",
volume = "19",
pages = "269--275",
journal = "Annali Italiani di Medicina Interna",
issn = "0393-9340",
publisher = "CEPI s.r.l.",
number = "4",

}

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 -