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Gaucher disease: treatment
Last reviewed: 23.04.2024
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Before there was no specific treatment for Gaucher's disease. However, recently clinical effectiveness of intravenous injections of modified placental glucocerebrosidase has been proved, they have been folded for selective capture by mannose lecithin on macrophages. At the same time, the size of the spleen and liver is reduced and hematological parameters are improved. The clinical effect was achieved using lower doses than previously used, which reduces the cost of treatment.
With extremely large spleen sizes, and in some cases, thrombocytopenia or acquired hemolytic anemia produce splenectomy or resection of the spleen. Complete removal of the spleen leads to more aggressive damage to the bones and an increased risk of malignant tumors. In the future, successful substitution enzyme therapy will eliminate the need for surgical intervention.
With decompensated cirrhosis, liver transplantation is performed. It does not eliminate the metabolic defect, and long-term follow-up is necessary to assess the degree of re-accumulation of liver lipids. They also produce TCM, but its risk is significantly higher than when performing substitution enzyme therapy.
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