The clinical course of treated and untreated Gaucher disease. A study of 45 patients

One hundred nineteen patients with Gaucher disease were examined in the past 13 years. Of these 45 were examined 3 or more times over a time-span exceeding one year and all such patients are included in this study. Adult patients showed little progression of disease. There were few alterations in the blood counts, no increase in size of liver and spleen, and changes in skeletal lesions were largely confined to pre-existing lesions. Some children appeared to have more progressive disease, but since many of the children in this study were treated with alglucerase, it is difficult to draw conclusions about the natural progression of the disease at earlier ages. Treatment with alglucerase resulted in gradual normalization of blood counts, decrease in the size of liver and spleen, and parallel decreases in the serum angiotensin converting enzyme and chitotriosidase levels. Skeletal symptoms were decreased in all patients, and skeletal lesions showed modest improvement in patients treated for two years or more. The response of patients to low dose/high frequency (2.3 U/Kg 3 x weekly; 30 U/Kg/Mo) therapy was indistinguishable from the response observed and previously reported by others with much larger doses. Changing the dosage from 30 U/Kg/Mo to 120 U/Kg/Mo was not attended by any significant changes in response. Criteria for the selection of patients for treatment with alglucerase are proposed. We suggest that a starting dose of 15 to 30 U/Kg/month, fractionated 3 times weekly be used for all patients, regardless of severity or site of involvement, and that upward dosage adjustments be made only in such rare patients who may not respond adequately to this dose in 6 to 12 months.