Gaucher disease is the first lysosomal storage disease for which specific therapy became available. Over 4800 patients have been treated with enzyme replacement therapy. Analysis of Gaucher disease registry data has outlined the clinical heterogeneity of the disease and the different responses to treatment from patient to patient, and for different organs. This variability in clinical response justifies the development of a severity score index to assess disease activity, stage and prognosis, and to quantify the effects of treatment.The “Gaucher Disease Severity Score Index Type I”(GauSSI-I), is based on the clinical experience of the authors and an extensive literature review, including data from the International Gaucher Registry. In particular for skeletal disease, all the available scoring systems have been reviewed and compared in order to provide a skeletal scoring system that allows use of any of the different methods. Siix specific domains, in which different items were scored according to their impact on morbidity, were characterized. GauSSI-I was evaluated in 53 type I Gaucher patients treated with imiglucerase, and it was compared to the Zimran score, the only severity index score so far available. It is a reliable method for staging the severity of adult type I Gaucher disease, and it is more sensitive than the Zimran score for monitoring the response to treatment.

A new severity score index for phenotypic classification and evaluation of responses to treatment in type I Gaucher disease / Di Rocco, Maja; Giona, Fiorina; Carubbi, Francesca; Linari, Silvia; Minichilli, Fabrizio; Brady, Roscoe O; Mariani, Giuliano; Cappellini, Maria Domenica. - In: HAEMATOLOGICA. - ISSN 0390-6078. - STAMPA. - 93:8(2008), pp. 1211-1218. [10.3324/haematol.12379]

A new severity score index for phenotypic classification and evaluation of responses to treatment in type I Gaucher disease

CARUBBI, Francesca;
2008

Abstract

Gaucher disease is the first lysosomal storage disease for which specific therapy became available. Over 4800 patients have been treated with enzyme replacement therapy. Analysis of Gaucher disease registry data has outlined the clinical heterogeneity of the disease and the different responses to treatment from patient to patient, and for different organs. This variability in clinical response justifies the development of a severity score index to assess disease activity, stage and prognosis, and to quantify the effects of treatment.The “Gaucher Disease Severity Score Index Type I”(GauSSI-I), is based on the clinical experience of the authors and an extensive literature review, including data from the International Gaucher Registry. In particular for skeletal disease, all the available scoring systems have been reviewed and compared in order to provide a skeletal scoring system that allows use of any of the different methods. Siix specific domains, in which different items were scored according to their impact on morbidity, were characterized. GauSSI-I was evaluated in 53 type I Gaucher patients treated with imiglucerase, and it was compared to the Zimran score, the only severity index score so far available. It is a reliable method for staging the severity of adult type I Gaucher disease, and it is more sensitive than the Zimran score for monitoring the response to treatment.
2008
93
8
1211
1218
A new severity score index for phenotypic classification and evaluation of responses to treatment in type I Gaucher disease / Di Rocco, Maja; Giona, Fiorina; Carubbi, Francesca; Linari, Silvia; Minichilli, Fabrizio; Brady, Roscoe O; Mariani, Giuliano; Cappellini, Maria Domenica. - In: HAEMATOLOGICA. - ISSN 0390-6078. - STAMPA. - 93:8(2008), pp. 1211-1218. [10.3324/haematol.12379]
Di Rocco, Maja; Giona, Fiorina; Carubbi, Francesca; Linari, Silvia; Minichilli, Fabrizio; Brady, Roscoe O; Mariani, Giuliano; Cappellini, Maria Domenica
File in questo prodotto:
File Dimensione Formato  
gaussi 2008.pdf

Open access

Tipologia: Versione pubblicata dall'editore
Dimensione 135.97 kB
Formato Adobe PDF
135.97 kB Adobe PDF Visualizza/Apri
Pubblicazioni consigliate

Licenza Creative Commons
I metadati presenti in IRIS UNIMORE sono rilasciati con licenza Creative Commons CC0 1.0 Universal, mentre i file delle pubblicazioni sono rilasciati con licenza Attribuzione 4.0 Internazionale (CC BY 4.0), salvo diversa indicazione.
In caso di violazione di copyright, contattare Supporto Iris

Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11380/1063469
Citazioni
  • ???jsp.display-item.citation.pmc??? 15
  • Scopus 50
  • ???jsp.display-item.citation.isi??? 46
social impact