SKELETAL MANIFESTATIONS OF GAUCHER DISEASE TYPE 1.

Abstract

Type 1 Gaucher Disease (GD1) is the most frequent lysosomal disorder. It is caused by a congenital deficit in glucocerebrosidase, and is a clinically heterogeneous chronic disorder of multisystemic nature. Eighty percent of patients present bone involvement, avascular necrosis, fractures, Erlenmeyer flask deformity, lytic lesions, pain and bone crises, osteopenia and osteoporosis; the latter are both associated with an increase in bone remodeling. The treatment of choice for GD1 is enzyme replacement therapy (ERT) with imiglucerase. The aim of ERT is to decrease or eliminate bone pain, prevent bone crises, osteonecrosis, and collapse of the subchondral joint, and improve bone mineral density (BMD). Bone pain disappears shortly after treatment onset, but long-term treatment is required to normalize BMD. Bisphosphonates can be used as adjuvant therapy for treatment of secondary osteopenia and osteoporosis associated with the disease, resulting in increased BMD in the short-term.