Improvement of life quality measured by Lansky Score after enzymatic replacement therapy in children with Gaucher disease type 1

BACKGROUND Gaucher disease type 1 (GD1, OMIM# 230800), is a condition with high impact in patient's quality of life (QoL). We report the improvement in QoL of children with GD1 measured by Lansky play-performance scale (LS) after enzymatic replacement therapy (ERT) and to describe our experience in the treatment of children with GD1. METHODS Five children with diagnosis of GD1 received imiglucerase 60 mg/kg every two weeks. LS, hepatomegaly, splenomegaly, hemoglobin, platelets, and growth rate were measured every 6 months after beginning ERT for 30 months. RESULTS After ERT, LS increased significantly from 28 ± 16.48 points before ERT to 70 ± 10 (P = 0.0046) and 95 ± 10 (P = 0.0022) points after 6 and 30 months of ERT, respectively; hemoglobin and platelets changed significantly from 9.28 ± 0.61 to 12.40 ± 0.85 (P = 0.0198) and from 71.50 ± 14.89 to 205.00 ± 65.34 (P = 0.0428) after 30 months of ERT, respectively. All patients demonstrated decreased hepatic and splenic size with mean reductions of 66% and 80% at 30 months of treatment and the USG longitudinal axis was reduced in both liver and spleen after ERT. CONCLUSION The use of ERT with imiglucerase 60 mg/kg every two weeks has substantial benefits and significantly improves QoL, assessed with Lansky Score, of the five children with GD1 studied.