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The diagnosis of Gaucher disease is confirmed by the assay of the deficient enzyme glucocerebrosidase. Blood samples are the most practical way to test enzyme activity in the plasma or leukocytes.

Chitotriosidase is secreted by activated macrophages and its activity in plasma is markedly increased in patients with Gaucher disease. Chitotriosidase activity has been seen to decrease in response to ERT and the decrease correlated with other indicators of positive clinical responses (eg, improvements in hematological and visceral parameters). Chitotriosidase is considered to be a valuable parameter for the monitoring of Gaucher patients.

For an overview download the minimum recommendations for the monitoring of Gaucher patients.

Gaucher disease is an autosomal recessive disorder. DNA analysis can be a valuable tool for investigating family pedigrees.

Contact your local Genzyme representative or e-mail us for a copy of our CD-ROM, which contains Gaucher presentations in PowerPoint format.