Gaucher disease is the first lysosomal storage disorder to be treated with macrophage-targeted
enzyme replacement therapy. Previous studies in relatively small numbers of patients
demonstrated short-term efficacy of this treatment. This study describes the effects
of 2 to 5 years of treatment on specific manifestations of type 1 Gaucher disease.
Physicians reported data from 1028 patients to the Gaucher Registry. Assessment of
response included serial measurements of hemoglobin concentration, platelet count,
liver and spleen volumes, and the occurrence of bone pain and bone crises.
Among anemic patients, hemoglobin concentration increased to normal or near normal
within 6 to 12 months, with a sustained response through 5 years. In thrombocytopenic
patients with intact spleens, the most rapid response occurred during the first 2
years, with slower improvement thereafter. The likelihood of achieving a normal platelet
count decreased with increasing severity of baseline thrombocytopenia. In patients
who had undergone splenectomy, platelet counts returned to normal within 6 to 12 months.
Hepatomegaly decreased by 30% to 40% during follow-up; splenomegaly decreased 50%
to 60%, but rarely to volumes below five times normal size. In patients with pretreatment
bone pain or bone crises, 52% (67/128) were pain free after 2 years and 94% (48/51)
reported no additional crises.
Enzyme replacement therapy prevents progressive manifestations of Gaucher disease,
and ameliorates Gaucher disease-associated anemia, thrombocytopenia, organomegaly,
bone pain, and bone crises.