Enzyme replacement therapy with imiglucerase in Taiwanese patients with type I Gaucher disease.
OBJECTIVE
The management of Gaucher disease has been dramatically improved by the development of enzyme replacement therapy (ERT), but there have been no reports of imiglucerase treatment of this disorder in Taiwanese patients. The goal of this study was to evaluate the outcome of imiglucerase treatment for type I Gaucher disease in the first Taiwanese patients to receive this treatment.


METHODS
Six patients received ERT for type I Gaucher disease at National Taiwan University Hospital. Their mean age was 36.5 years; four had undergone splenectomy before and one after the start of ERT. All received intravenous imiglucerase 60 U/kg every 2 weeks. Patients were regularly evaluated, including physical examination, laboratory tests and bone roentgenography.


RESULTS
All six patients responded well to therapy. The mean length of therapy was 30.3 months. Five patients had anemia, and the mean increase in hemoglobin was 4.46 g/dL. Five patients had thrombocytopenia, and the mean increase in platelet count was 259 x 10(3)/microL. Laboratory data showed a slower response in hemoglobin than in platelet count, which may have been related to splenectomy and low initial platelet count. A decrease in serum alkaline phosphatase was the most prominent finding related to liver function. All patients had a prominent decrease in liver size. No patient had painful bony crises, but no significant improvement was observed in skeletal roentgenograms. There were no serious side effects.


CONCLUSIONS
ERT reversed the visceromegaly and hematologic abnormalities of Gaucher disease and improved the patient's quality of life. It was effective in reducing organomegaly, correcting anemia and thrombocytopenia, improving liver function and alleviating bone pain.
Hsu
Chia-Chi
CC
Departments of Pediatrics and Medical Genetics, National Taiwan University Hospital, National Taiwan University College of Medicine, Taipei, Taiwan.
Chien
Yin-Hsiu
YH
Lai
Ming-Yang
MY
Hwu
Wuh-Liang
WL
D000328:Adult; D005260:Female; D005776:Gaucher Disease / Q000188:drug therapy*; D005962:Glucosylceramidase / Q000627:therapeutic use*; D006801:Humans; D007262:Infusions, Intravenous; D008297:Male; D008875:Middle Aged; D011994:Recombinant Proteins / Q000627:therapeutic use*
D011994:Recombinant Proteins; D005962:Glucosylceramidase; C090568:imiglucerase