Gaucher disease (GD), one of the commonest lysosomal disorders (a global population incidence of 1:50,000), is characterized by beta-glucocerebrosidase deficiency. Some studies have demonstrated bone infiltration in up to 80% of patients, even if asymptomatic. Bone disorder remains the main cause of morbidity in these patients, along with osteoporosis, avascular necrosis, and bone infarcts. Enzyme replacement therapy (ERT) has been shown to improve these symptoms.
This cross-sectional study included patients with type 1 Gaucher disease (GD1) selected from the Catalan Study Group on GD.
J Bone Miner Res. 2017 Mar 6.
Herrera S, Pérez-López J, Moltó-Abad M, Güerri-Fernández R,Cabezudo E, Novelli S, Esteve J, Hernández A, Roig I,Solanich X, Prieto-Alhambra D, Nogués X, Díez-Pérez A.