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

• Published in: British journal of haematology 2012-08, Vol.158 (4), p.528-538
• Main Authors: Hollak, Carla E. M., Belmatoug, Nadia, Cole, J. Alexander, vom Dahl, Stephan, Deegan, Patrick B., Goldblatt, Jack, Rosenbloom, Barry, van Dussen, Laura, Tylki-Szymańska, Anna, Weinreb, Neal J., Zimran, Ari, Cappellini, Maria Domenica
• Format: Article
• Language: English
• Subjects: Adult; Aged; Anemia - etiology; Biological and medical sciences; enzyme replacement therapy; Enzyme Replacement Therapy - methods; Errors of metabolism; Female; Gaucher disease; Gaucher Disease - blood; Gaucher Disease - complications; Gaucher Disease - drug therapy; Glucosylceramidase - therapeutic use; Hematologic and hematopoietic diseases; Humans; imiglucerase; Lipids (lysosomal enzyme disorders, storage diseases); Male; Medical sciences; Metabolic diseases; Middle Aged; Platelet Count; Platelet diseases and coagulopathies; Recombinant Proteins - therapeutic use; Registries; Retrospective Studies; Splenomegaly - blood; Splenomegaly - etiology; thrombocytopenia; Thrombocytopenia - blood; Thrombocytopenia - etiology; Young Adult
• ISSN: 0007-1048; 1365-2141
• DOI: 10.1111/j.1365-2141.2012.09175.x

Summary 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 × 109/l (n = 772); ≥100 to