Enzymatic Replacement Therapy (ERT) with Low Doses in Gaucher Disease in the State of Sao Paulo (Brazil).

INTRODUCTION: The authors, who are members of the Gaucher Disease (GD) Specialists Committee of Sao Paulo State, Brazil, provide demographic data and report the evolution of patients from this Brazilian State, who were treated according to the Clinical Protocol and Therapeutic Instructions for GD treatment created by the Health Department www.saude.gov.br, Notice SAS/MS 449 of 08/07/2002.

METHODS: In May 2004, 130 patients were analysed. One hundred and thirteen of the the130 received Enzymatic Replacement Therapy (ERT) with imiglucerase and 75% of them (85 /113) were > 12 years old. The GD symptoms were investigated in patients above this age who received 15–30 U/kg/2 weeks, according to the Health Department Protocol between August 2002 and November 2003.

OBJECTIVES: Present the evolution of patients > 12 years old having a dose reduction in ERT following said Protocol.

RESULTS: For the 85 patients > 12 years, the mean dose of ERT was 37,6 U/kg/2 weeks (13 to 62 U/kg/2weeks), 4 cases improved without sign of pain and maintained a low dose. Fourteen cases again suffered from bone pain. One of them developed bone infarct and 1 experienced a painless bone lytic lesion. The patients who were in a worse condition received a dose increase (up to 60 U/kg/2 weeks). Of the patients taking doses between 20 and 30 U/kg/2 weeks, 6 had bone pain again and 1 case experienced Parkinsons’ disease. The latter received a dose increase up to 60 U/kg/2 weeks

CONCLUSION: The authors concluded that the dose in ERT must be individualised and that in many times, low doses (15 U/kg/2 weeks) are not enough to avoid GD complications.