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Gaucher's Disease - Treatment
Last reviewed: 06.07.2025
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Previously, there was no specific treatment for Gaucher disease. However, recently, the clinical effectiveness of intravenous administration of modified placental glucocerebrosidase, ligand-cosylated for selective capture by mannose lecithin on macrophages, has been proven. In this case, a decrease in the size of the spleen and liver and an improvement in hematological parameters are noted. The clinical effect was achieved using smaller doses than previously used, which allows reducing the cost of treatment.
In cases of extremely large spleens, and in some cases of thrombocytopenia or acquired hemolytic anemia, splenectomy or resection of the spleen is performed. Complete removal of the spleen leads to more aggressive bone lesions and an increased risk of malignant tumors. In the future, successful enzyme replacement therapy will eliminate the need for surgical intervention.
In decompensated cirrhosis, liver transplantation is performed. It does not eliminate the metabolic defect, and long-term observation is necessary to assess the degree of re-accumulation of liver lipids. BMT is also performed, but its risk is significantly higher than with enzyme replacement therapy.
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