Patients with Gaucher disease have abnormal accumulations of a compound called glucocerebroside due to the deficiency of the enzyme glucocerebrosidase. This accumulation causes cells to form what is known as "Gaucher cells" which displace healthy cells in bone marrow, cause an enlargement of the liver and spleen, organ dysfunction, and deterioration of the skeleton. There are three different types of Gaucher disease which range in terms of severity and age of onset. An enzyme assay can confirm the diagnosis.
Enzyme replacement therapy (ERT) has been used in the treatment of Gaucher disease - to reverse the symptoms and improve the quality of life. It must be taken throughout the life of the individual, otherwise the health problems from the gene defect return. Patients must be under the care of a physician to monitor the therapy for any adverse reactions and adjust dosages.