Abstract

Gaucher disease (GD) is a lysosomal storage disorder due to glucosylsphingosine accumulation in several organs and tissues. Main manifestations include hematological abnormalities, hepatosplenomegaly and bone disease. The latter is a major cause of morbidity and reduced quality of life in GD patients, including defects in bone mineralization with increased risk of fractures, bone deformities, osteolysis and osteonecrosis with possible severe painful acute episodes called bone crisis. In this review, we provide a comprehensive analysis of various aspects of bone complications in GD, including their possible manifestations, pathophysiological mechanisms, and current diagnostic and follow-up methods. We also summarize the available literature on bone complications’ response to specific treatments available for GD and to the osteo-active drugs such as biphosphates, finally hypothesizing future perspectives.