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he signs and symptoms of Gaucher's disease, some patients have withdrawn fr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le Gaucher's disease may be withdrawn from therapy for circumscribed period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,