EFFECT OF LOW-DOSE ENZYME REPLACEMENT THERAPY ON BONES IN GAUCHER DISEASE PATIENTS WITH SEVERE SKELETAL INVOLVEMENT

Gaucher disease, the most common glycolipid storage disorder, is chara cterized by hepatosplenomegaly and skeletal involvement, Enzyme replac ement therapy in both the high- and low-dose regimens has been shown t o be effective in reducing the organomegaly and improving the hematolo gical parameters of symptomatic patients with type I disease. Herein w e report subjective and objective responses of bone-related complicati ons after 2 to 4 years of low-dose enzyme replacement therapy in 14 ad ult type I patients with severe skeletal involvement pre-treatment. We discuss our results relative to those reported in patients on the hig h-dose regimen, as well as with reference to a single patient who deve loped new avascular necrosis despite objective improvement in radiolog ical studies.