The characteristics of
Gaucher disease (GD) associated with persistent
thrombocytopenia despite
imiglucerase enzyme therapy in type 1 GD (GD1) were investigated by retrospective analysis of International Collaborative Gaucher Group (ICGG) Registry data. The study involved 1016 GD1 patients with an intact spleen for whom date of diagnosis,
therapy initiation, and platelet counts were known, and who received continuous
imiglucerase therapy for 4 to 5 years. These patients were stratified by last platelet count: ≥ 120 × 10(9) /l (n = 772); ≥ 100 to <120 × 10(9) /l (n = 94); ≥ 80 to <100 × 10(9) /l (n = 80); and <80 × 10(9) /l (n = 70; 20 with <60 × 10(9) /l) and characterized by initial and cumulative average
imiglucerase dose, body mass index, platelet count, anaemia,
hepatomegaly,
splenomegaly, and skeletal assessments at baseline and after 4-5 years of
therapy. Statistically significant associations were found between persistent
thrombocytopenia and baseline platelet count (<80 × 10(9) /l),
splenomegaly, and anaemia (all P < 0·0001). After 4-5 years, statistically significant associations were found with
splenomegaly (P < 0·0001), anaemia (P < 0·0001), white blood cell count (P = 0·049),
hepatomegaly (P = 0·004) and bone
pain (P = 0·035). Exponential platelet decay in relation to
splenomegaly suggests that platelets increase only when spleen volume decreases substantially.