Withdrawal of enzyme replacement therapy in Gaucher's disease

Although enzyme replacement therapy is safe and effective in ameliorating t he signs and symptoms of Gaucher's disease, some patients have withdrawn fr om treatment. The purpose of this study was to evaluate the response to wit hdrawal and to discuss the implications for patients currently on unaltered therapy regimens since the advent of treatment. Fifteen patients, who had been treated with enzyme replacement for 5-56 months and then withdrew for 8-47 months, were assessed for changes in haematological parameters and in liver and spleen index volume. Despite non-uniformity of duration of on and off periods, degree of organomegaly, anaemia and thrombocytopenia. most pa tients did not revert to respective baseline values in most parameters afte r withdrawal. None of the patients suffered exacerbation of bone involvemen t or had new or aggravated pulmonary hypertension. Adult patients with stab le Gaucher's disease may be withdrawn from therapy for circumscribed period s without forfeiting most gains accrued during enzyme therapy. Therefore, s topping and restarting may be considered in some patients. Alternatively, m aintenance at reduced dosage and/or frequency may be appropriate in some ad ult patients who are stable or non-responsive after the first years of enzy me therapy. This caveat does not apply to children,