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. 2012 Nov 19;4(4):e21.
doi: 10.4081/hr.2012.e21. Epub 2012 Nov 29.

Bone turnover markers in patients with type 1 Gaucher disease

Gaetano Giuffrida  1 , Maria Rocca Cingari, Nunziatina Parrinello, Alessandra Romano, Anna Triolo, Magda Franceschino, Francesco Di Raimondo
Affiliations

Bone turnover markers in patients with type 1 Gaucher disease

Gaetano Giuffrida et al. Hematol Rep. .

Abstract

Bone complications occur frequently in Gaucher disease (GD) and reduce the quality of life of these patients. Skeletal involvement is an important indication for treatment to ameliorate symptoms and reduce the risk of irreversible and debilitating disease. Bone biomarkers have been used to assess disease status and the response to therapy in a number of bone disorders. Here, we examine the literature for evidence of abnormalities in bone turnover markers in patients with type 1 GD to assess whether they might be useful for the assessment of bone involvement in GD. We have found that bone biomarkers in GD show highly variable results which do not currently support their routine use for clinical assessment of bone status, as an indication for therapy initiation, or for monitoring the response to therapy. A greater understanding of bone markers and their relation to the bone manifestations of GD is required.

Keywords: Gaucher disease; biomarkers; bone; osteopenia..

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Conflict of interest statement

Conflict of interests: the preparation of this manuscript was supported by an unrestricted educational grant from Genzyme Corporation, which included funding for English language medical writing support from P. Pickering, Conscience Creative LLP, UK. The opinions of the authors are their own and do not necessarily reflect those of Genzyme Corporation. The authors declare that they have no further conflict of interests.

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