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Advances in Hematology
Volume 2013, Article ID 151506, 6 pages
http://dx.doi.org/10.1155/2013/151506
Research Article

Achievement of Therapeutic Goals with Low-Dose Imiglucerase in Gaucher Disease: A Single-Center Experience

1Shaare Zedek Medical Center, Affiliated to the Hadassah-Hebrew University School of Medicine, Ein Karem 91031, Israel
2Gaucher Clinic and Preimplantation Genetics Unit, Shaare Zedek Medical Center, Affiliated to the Hadassah-Hebrew University School of Medicine, Ein Karem 91031, Israel

Received 3 July 2013; Revised 8 September 2013; Accepted 15 September 2013

Academic Editor: David Varon

Copyright © 2013 Irina Tukan et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Abstract

Gaucher disease, a lysosomal storage disorder, is a multisystem disorder with variable and unpredictable onset and severity. Disease-specific enzyme replacement therapy (ERT) has been shown to reverse or ameliorate disease-specific hepatosplenomegaly and anemia and thrombocytopenia. ERT also impacts bone manifestations, including bone crises, bone pain, and appearance of new osteonecrosis, and improves bone mineral density to varying degrees. The objective of this study was to assess achievement of predefined therapeutic goals based on international registry outcomes for Israeli patients with Gaucher disease receiving imiglucerase for four consecutive years on a low-dose regimen followed in a single center. All data were taken from patient files. The therapeutic goals were taken from standards published in the literature for disease-specific clinical parameters. Among 164 patients at baseline, values for spleen and liver volumes, hemoglobin and platelet counts, and Z-scores for lumbar spine and femoral were significantly different from the goal. After four years ERT, there was a significant improvement ( ) in each of the therapeutic goal parameters from baseline. 15.2% of these patients achieved all hematology-visceral goals. In children, there was achievement of linear growth and puberty. This survey highlights the good overall response in symptomatic patients receiving low-dose ERT with imiglucerase in Israel.