Enzyme Replacement Therapy for Gaucher Disease in Clinical Practice

Gaucher disease is caused by a deficiency of the lysosomal enzyme glucocerebrosidase, resulting from mutations in the GBA1 gene. This deficiency leads to progressive accumulation of glucocerebroside within macrophages, forming characteristic lipid-laden cells throughout the reticuloendothelial system. Accumulation primarily affects the spleen, liver and bone marrow, driving the disease's clinical manifestations. Type 1 Gaucher disease is the most common form and does not typically involve primary neurological disease.

Enzyme replacement therapy aims to reduce hepatosplenomegaly, improve haemoglobin and platelet counts, and stabilise or improve skeletal disease over time. Clinical response is typically monitored using established therapeutic goals specific to each affected organ system. Improvement in haematological parameters is often observed within the first year of treatment, while skeletal changes may take longer to manifest. Long-term therapy aims to prevent irreversible complications such as avascular necrosis and pathological fractures.

Monitoring typically includes regular assessment of haemoglobin, platelet count, liver and spleen volume via imaging, and skeletal evaluation where clinically indicated. Monitoring frequency is usually higher during the initial treatment period and may be reduced once the patient reaches stable therapeutic goals. Structured monitoring supports early identification of suboptimal response or disease progression. This ongoing assessment guides any need for treatment adjustment.