pediatrics
Gaucher Disease
Treatment of Gaucher Disease
Types I and III: Enzyme replacement with glucocerebrosidase Sometimesmiglustat,eliglustat, splenectomy, or stem cell or bone marrow transplantation Enzyme replacement with IV glucocerebrosidase is effective in types I and III; there is no treatment for type II. The enzyme is modified for efficient delivery to lysosomes. Patients receiving enzyme replacement require routine hemoglobin and platelet monitoring, routine assessment of spleen and liver volume by CT or MRI, and routine assessment of bone disease by skeletal survey, dual-energy x-ray absorptiometry scanning, or MRI. Miglustat(100 mg orally 3 times a day), a glucosylceramide synthase inhibitor, reduces glucocerebroside concentration (the substrate for glucocerebrosidase) and is an alternative for patients unable to receive enzyme replacement. Eliglustat(84 mg orally once a day or 2 times a day), another glucosylceramide synthase inhibitor, also reduces glucocerebroside concentration. Splenectomy may be helpful for patients with anemia, leukopenia, or thrombocytopenia or when spleen size causes discomfort. Patients with anemia may also need blood transfusions. Bone marrow transplantation or stem cell transplantation provides a definitive cure but is considered a last resort because of substantial morbidity and mortality. 