Management of patients with Gaucher's disease: Clinical perspectives

Gaucher's disease is a clinically heterogeneous disorder, including neuropathic and non-neuropathic variants. Among patients with non-neuropathic (type I disease), the wide variability in age of onset and the differential pattern and severity of disease expression complicate decision-making in relation to treatment. Optimal care may necessitate both palliative and adjunctive therapies. In the more mildly affected patient without clear signs of disease progression, the main issue is the appropriate time to intervene. In moderately to severely affected patients, the challenges include selection of an optimal treatment regimen and dealing with residual disease burden. Eventually, in well-controlled patients, guidance will be required on long-term maintenance regimens that will have to take the cost of care into consideration. Guidelines reached by consensus will hopefully reduce variation in clinical practice and promote integrated care pathways.