Remaining problems in the management of patients with Gaucher disease

The history of treatment of Gaucher disease started with splenectomy and co ntinued with bone marrow transplantation, before the recent introduction of enzyme replacement therapy. Although the latter has revolutionized the pro gnosis of patients, many questions remain to be answered and clinical manag ement problems resolved. These include how to monitor enzyme replacement to determine the optimal dosage, how to treat mild disease, whether intermitt ent treatment is an option, and the causes of the neurological signs and ho w to treat them. The pulmonary hypertension problem has also not been resol ved, and we need to determine how to treat and monitor bone disease. In add ition, the future role of substrate deprivation needs to be determined, and further research is required before gene therapy becomes a potential clini cal option. The high cost of enzyme replacement treatment for Gaucher disea se remains an important issue.