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Gaucher disease and bone manifestations
Marcucci, Gemma Zimran, Ari Bembi, Bruno Kanis, John Reginster, Jean-Yves Rizzoli, Rene Cooper, Cyrus Brandi, Maria Luisa
Marcucci, Gemma
Zimran, Ari
Bembi, Bruno
Kanis, John
Reginster, Jean-Yves
Rizzoli, Rene
Cooper, Cyrus
Brandi, Maria Luisa
Abstract
Gaucher disease is a relatively rare metabolic disease caused by the inherited deficiency of the lysosomal enzyme glucocerebrosidase. Gaucher disease affects multiple organs, among which is the skeleton. Bone involvement occurs frequently in Gaucher disease, and is one of its most debilitating features, reducing the quality of life of patients. Bone status is an important consideration for treatment to ameliorate symptoms and reduce the risk of irreversible complications. We have conducted a systematic review of all the various aspects of Gaucher disease, focusing on different skeletal manifestations, pathophysiology of bone alterations, clinical symptoms, and current diagnostic and therapeutic approaches.
Keywords
Gaucher disease Bone Biomarkers Enzyme replacement therapy Substrate reduction therapy Osteonecrosis
Date
2014
Type
Journal article
Journal
Calcified Tissue International
Book
Volume
95
Issue
6
Page Range
477-494
Article Number
ACU Department
Mary MacKillop Institute for Health Research
Faculty of Health Sciences
Faculty of Health Sciences
Collections
Relation URI
Source URL
Event URL
Open Access Status
License
File Access
Controlled