Bone crisis in stable Gaucher's disease

Sir, During the past 20 years, modern treatments have dramatically changed the prognosis for symptomatic patients with type 1 Gaucher's disease (GD). Since 1991, therapy has shifted from an approach primarily directed at symptom control to the actual reduction of glucocerebroside cellular burden. The latter therapeutic option has been realized through enzyme replacement therapy (ERT) and, more recently, with the use of miglustat, an oral substrate synthesis inhibitor (an approach referred to as substrate reduction therapy, SRT). However, certain problems (e.g. pulmonary hypertension, bone involvement) may persist even with treatment directed at the underlying biochemical basis of GD. Response to treatment in patients with these two complications is not entirely predictable, and there are no clinical or biochemical markers that can reliably predict treatment outcome. Indeed, an otherwise good haematological and visceral (liver/spleen) response to ERT does …