Gaucher disease and bone manifestations.
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.
Head, Bone Metabolic Diseases Unit, Department of Surgery and Translational Medicine, University of Florence, Viale Pieraccini 6, 50139, Florence, Italy.
Gemma
G
Marcucci
Ari
A
Zimran
Bruno
B
Bembi
John
J
Kanis
Jean-Yves
JY
Reginster
Renè
R
Rizzoli
Cyrus
C
Cooper
Maria Luisa
ML
Brandi
D001847:Bone Diseases / Q000209:etiology* / Q000503:physiopathology*; D005776:Gaucher Disease / Q000150:complications* / Q000503:physiopathology*; D006801:Humans