Gaucher disease is the most common disease among all inherited glycosphingolipid storage disorders, affecting approximately 7,000 patients worldwide.

It is an inherited autosomal recessive disorder caused by the accumulation of glucosylceramide in the lysosomes of monocyte-derived macrophages (Gaucher cells), in tissues of the reticuloendothelial system, due to the reduced activity of lysosomal ß-glucocerebrosidase. Accumulation of glucosylceramide in Kupffer cells in the liver and in splenic macrophages is associated with enlargement of the corresponding organs. Splenomegaly and bone marrow infiltration by Gaucher cells lead to progressive anemia and thrombocytopenia. Accumulation of glucosylceramide in bone marrow is associated with osteopenia, lytic lesions, chronic pain, acute episodes of "bone crisis”, bone infarcts, and osteonecrosis. Overall, Gaucher disease is a multi-system disease with under-diagnosed bone manifestations, in particular, reduced bone mineral density and bone pain, resulting in long-term disability.