Outcome of enzyme replacement therapy in patients with Gaucher disease type I. The Romanian experience

Summary Aim: This study reports the first evaluation of therapeutic response in Romanian patients with Gaucher disease type I, after therapy with Cerezyme recently became available in our country. Patients and methods: 24 patients (11–50 years) received Cerezyme 20–60 U/kg every two weeks for at least 18 months. Haemoglobin, platelet count, volume of the liver and spleen, plasma chitotriosidase and the severity score were assessed every 6 months; skeletal radiography and osteodensitometry were also monitored. Results: Eleven patients were splenectomized before start of therapy. Eight patients had anaemia (mean haemoglobin 9.4 g/dl) and 14 patients, of whom 13 were without splenectomy, had thrombocytopenia (mean 65 692/mm³). Haemoglobin values normalized after 6 months and the platelet count increased to 147 818/mm³ after 18 months of treatment. Splenomegaly improved (mean 13.8× to 5.6× normal), hepatomegaly improved (mean 1.4× to 1.06× normal), the severity score decreased (mean 15.9 to 8.4), plasma chitotriosidase levels showed a reduction from 40 956 to 11 266 nmol/h per ml plasma. Bone disease improved clinically in all patients; bone radiography and osteodensitometry showed no further disease progress. We observed a mean weight gain of 4.3 kg, an improvement in quality of life, and the absence of therapeutic adverse events. Conclusions: Enzyme replacement therapy administered for 18 months in Romanian patients with Gaucher disease type I led to a marked improvement in haematological parameters and hepato- and splenomegaly. In the majority of patients we observed no further progress of bone disease; for an improvement in skeletal disease, a longer treatment period is required. Competing interests: None declared References to electronic databases: Gaucher disease type I, OMIM #230800.