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Characteristics of type I Gaucher disease associated with persistent thrombocytopenia after treatment with imiglucerase for 4–5 years
Author(s) -
Hollak Carla E. M.,
Belmatoug Nadia,
Cole J. Alexander,
vom Dahl Stephan,
Deegan Patrick B.,
Goldblatt Jack,
Rosenbloom Barry,
Dussen Laura,
TylkiSzymańska Anna,
Weinreb Neal J.,
Zimran Ari,
Cappellini Maria Domenica
Publication year - 2012
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1111/j.1365-2141.2012.09175.x
Subject(s) - medicine , enzyme replacement therapy , platelet , gastroenterology , spleen , bone marrow , white blood cell , splenectomy , disease , pediatrics
Summary The characteristics of Gaucher disease ( GD ) associated with persistent thrombocytopenia despite imiglucerase enzyme therapy in type 1 GD ( GD 1) were investigated by retrospective analysis of International Collaborative Gaucher Group ( ICGG ) Registry data. The study involved 1016 GD 1 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.