Gaucher disease is a rare autosomal recessive disorder of glycosphingolipid metabolism resulting from deficient activity of the lysosomal enzyme beta-glucocerebrosidase that causes accumulation of glucosylceramide in tissue macrophage with damage to hematological, visceral, and skeletal organ systems. Severity and progression may vary independently among these domains, necessitating individualized therapy. Skeletal involvement is highly prevalent and often associated with intense pain, impaired mobility, and reduced quality of life. Enzyme replacement therapy improves parameters in all affected domains, but skeletal involvement requires longer treatment and higher dosages to obtain significant results. Despite numerous papers on bone complications in patients with Gaucher disease, there are no specific indications on how to assess properly bone involvement in such condition, the frequency of assessment, the use of markers for osteoblast and osteoclast activity, or the administration of bisphosphonates or other symptomatic drugs in adult and pediatric patients. Starting from a re-evaluation of cases with bone involvement, we have identified some common errors in the diagnostic approach and management. The aim of this paper was to propose a methodological and critical approach to the diagnosis, follow-up and treatment of bone disease in patients with Gaucher disease type 1.

Management of bone disease in Gaucher disease type 1: clinical practice / Giuffrida, Gaetano; Cappellini, Maria Domenica; Carubbi, Francesca; Di Rocco, Maja; Iolascon, Giovanni. - In: ADVANCES IN THERAPY. - ISSN 0741-238X. - ELETTRONICO. - 31:12(2014), pp. 1197-1212. [10.1007/s12325-014-0174-0]

Management of bone disease in Gaucher disease type 1: clinical practice

CARUBBI, Francesca;
2014

Abstract

Gaucher disease is a rare autosomal recessive disorder of glycosphingolipid metabolism resulting from deficient activity of the lysosomal enzyme beta-glucocerebrosidase that causes accumulation of glucosylceramide in tissue macrophage with damage to hematological, visceral, and skeletal organ systems. Severity and progression may vary independently among these domains, necessitating individualized therapy. Skeletal involvement is highly prevalent and often associated with intense pain, impaired mobility, and reduced quality of life. Enzyme replacement therapy improves parameters in all affected domains, but skeletal involvement requires longer treatment and higher dosages to obtain significant results. Despite numerous papers on bone complications in patients with Gaucher disease, there are no specific indications on how to assess properly bone involvement in such condition, the frequency of assessment, the use of markers for osteoblast and osteoclast activity, or the administration of bisphosphonates or other symptomatic drugs in adult and pediatric patients. Starting from a re-evaluation of cases with bone involvement, we have identified some common errors in the diagnostic approach and management. The aim of this paper was to propose a methodological and critical approach to the diagnosis, follow-up and treatment of bone disease in patients with Gaucher disease type 1.
2014
31
12
1197
1212
Management of bone disease in Gaucher disease type 1: clinical practice / Giuffrida, Gaetano; Cappellini, Maria Domenica; Carubbi, Francesca; Di Rocco, Maja; Iolascon, Giovanni. - In: ADVANCES IN THERAPY. - ISSN 0741-238X. - ELETTRONICO. - 31:12(2014), pp. 1197-1212. [10.1007/s12325-014-0174-0]
Giuffrida, Gaetano; Cappellini, Maria Domenica; Carubbi, Francesca; Di Rocco, Maja; Iolascon, Giovanni
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Descrizione: Gaucher disease expert panel on bone disease: clinical experience and bone disease evaluation and monitoring and recommendations
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11380/1063339
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