Characteristics of type I Gaucher disease associated with persistent thrombocytopenia after treatment with imiglucerase for 4-5 years

Carla E M Hollak, Nadia Belmatoug, J. Alexander Cole, Stephan vom Dahl, Patrick B. Deegan, Jack Goldblatt, Barry Rosenbloom, Laura van Dussen, Anna Tylki-Szymańska, Neal J. Weinreb, Ari Zimran, Maria Domenica Cappellini

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Abstract

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 9/l (n = 94); ≥80 to 9/l (n = 80); and 9/l (n = 70; 20 with 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 (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.

Original languageEnglish
Pages (from-to)528-538
Number of pages11
JournalBritish Journal of Haematology
Volume158
Issue number4
DOIs
Publication statusPublished - Aug 2012

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Keywords

  • Enzyme replacement therapy
  • Gaucher disease
  • Imiglucerase
  • Thrombocytopenia

ASJC Scopus subject areas

  • Hematology

Cite this

Hollak, C. E. M., Belmatoug, N., Cole, J. A., vom Dahl, S., Deegan, P. B., Goldblatt, J., Rosenbloom, B., van Dussen, L., Tylki-Szymańska, A., Weinreb, N. J., Zimran, A., & Cappellini, M. D. (2012). Characteristics of type I Gaucher disease associated with persistent thrombocytopenia after treatment with imiglucerase for 4-5 years. British Journal of Haematology, 158(4), 528-538. https://doi.org/10.1111/j.1365-2141.2012.09175.x