Short-Term Effects of Pamidronate in Patients with Gaucher's Disease and Severe Skeletal Involvement

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Abstract
Gaucher's disease is caused by deficiency of the lysosomal enzyme acid β-glucocerebrosidase that leads to an accumulation of glucocerebroside in the cells of the reticuloendothelial system.1 The disease is classified into three types according to the presence or absence of neurologic symptoms. Type 1 (non-neuronopathic) is the most common; the clinical signs include hepatosplenomegaly, pancytopenia, and bone involvement. The last of these is probably the most disabling feature and may result in irreversible skeletal damage, such as osteoporosis, osteonecrosis with collapse of major joints, and pathologic fractures with secondary deformity. Enzyme-replacement therapy with modified β-glucocerebrosidase (alglucerase) is effective2 but is hard to obtain in some countries. Bisphosphonates inhibit osteoclast-mediated bone resorption3 and have proved effective in treating the bone manifestations of Gaucher's disease.4,5