ABSTRACT. Gaucher disease, the most common glycolipid storage disorder, is characterized by hepatosplenomegaly and skeletal involvement. Enzyme replacement therapy in both the high- and low-dose regimens has been shown to be effective in reducing the organomegaly and improving the hematological parameters of symptomatic patients with type I disease. Herein we report subjective and objective responses of bone-related complications after 2 to 4 years of low-dose enzyme replacement therapy in 14 adult type I patients with severe skeletal involvement pre-treatment. We discuss our results relative to those reported in patients on the high-dose regimen, as well as with reference to a single patient who developed new avascular necrosis despite objective improvement in radiological studies.

Keywords: Gaucher disease, avascular necrosis, alglucerase, imiglucerase.

Reprint requests to: Ari Zimran, M.D., Gaucher Clinic, Shaare Zedek Medical Center, P.O. Box 3235, Jerusalem 91031, Israel, phone: 972-2-6555330 or 972-2-6555673, fax: 972-2-795553, e-mail: zimran@md2.huji.ac.il.

Communicated on June 18, 1996 by Gregory A. Grabowski, M.D., Children's Hospital Medical Center, Cincinnati, Ohio.

Communicated on June 19, 1996 by Ernest Beutler, M.D., The Scripps Research Institute, La Jolla, California.