Treatment of Type 1 Gaucher's Disease Affecting Bone with Aminohydroxypropylidene Bisphosphonate (Pamidronate)

Two patients with Type 1 (adult) Gaucher's disease and majorskeletal involvement with multiple fractures have been treatedwith the second generation bisphosphonate pamidronate for extensiveperiods. There was evidence of an immediate reduction in boneresorption, with increased calcium absorption (delayed in Patient1), improved calcium balance and maintained or improved bonedensity indices in the axial and peripheral skeleton. Therewas no evidence of immediate relapse on treatment cessation.No toxic effects of pamidronate treatment were identified andsubjective skeletal pain diminished in both patients. Histomorphometryof transiliac bone biopsies obtained before the start of treatment,after double in vivo tetracycline labelling, represents oneof the earliest reports of the quantitative findings in iliacbone invaded by Gaucher cells.