Type 1 Gaucher's disease, the most common lysosomal storage disorder, is caused by an autosomal recessive deficiency of glucocerebrosidase that results in a pathologic accumulation of its substrate, glucocerebroside, in the cells of the monocyte/macrophage lineage mainly of the spleen, liver and bone marrow. The symptoms are heterogeneous and include hepatosplenomegaly, anemia, thrombocytopenia, bone marrow infiltration, and skeletal lesions. We evaluated the effects of enzyme replacement therapy (ERT) on anemia, thrombocytopenia, hepatosplenomegaly, growth retardation (children and adolescents) and bone pain among 90 patients with type 1 Gaucher's disease treated during 24 months in Sao Paulo State. Baseline signs and symptoms were anemia (50%), thrombocytopenia (59%), hepatomegaly (97%), splenomegaly (96%), growth retardation (46%) and bone pain (62%). The mean dose of ERT was 35 U/kg every two weeks. Reduction in anemia, thrombocytopenia and bone pain was greatest during the first six months of ERT and of hepatosplenomegaly and growth retardation within 18 months. Improvements were sustained by most of the patients during the follow-up. Within 24 months of ERT, therapeutic goals were achieved in at least 88% of patients with anemia, 80% with thrombocytopenia, 34% with hepatosplenomegaly, 77% with growth retardation and 76% with bone pain. Other studies are needed to evaluate the treatment efficacy over a longer period, mainly for skeletal lesions and growth retardation, which may present a slower recovery due to low penetration of imiglucerase in bones.
Gaucher's Disease; glucosylceramide; imiglucerase; alglucerase; treatment efficacy
