TYPE-1 GAUCHER-DISEASE - PHENOTYPIC-EXPRESSION AND NATURAL-HISTORY INJAPANESE PATIENTS

Gaucher disease is caused by a deficiency of glucocerebrosidase, resul ting in hepatosplenomegaly, pancytopenia, growth retardation and skele tal involvement. We analyzed data on genotype and key clinical paramet ers in 35 Japanese patients with Gaucher disease type 1. Our data demo nstrated that over 60% of patients had onset of Gaucher disease signs/ symptoms at less than 5 years. Sixty percent and 46% of evaluable pati ents were splenectomized and developed severe bone involvement, respec tively. Within mean follow-up periods of 8 years and 4 months, mean re lative height and weight, severity score index and platelet count all worsened to a highly significant degree. These data suggest that type 1 Gaucher disease tends to be severe and progressive in Japanese patie nts, most of whom would be suitable for treatment and might indeed req uire earlier and more aggressive therapy.