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Treatment of profound thrombocytopenia in a patient with Gaucher disease type 1
Is there a role for substrate reduction therapy
Ha, C. I., DeArmey, S., Cope, H., Rairikar, M., & Kishnani, P. S. (2017). Treatment of profound thrombocytopenia in a patient with Gaucher disease type 1: Is there a role for substrate reduction therapy. Molecular Genetics and Metabolism Reports, 12, 82-84. https://doi.org/10.1016/j.ymgmr.2017.06.003
The availability of three enzyme replacement therapy (ERT) drugs and two substrate reduction therapy (SRT) drugs to treat Gaucher disease provides an opportunity to tailor therapies to a patient's specific clinical concerns. However, there is a gap in the literature regarding individual drug effectiveness in treating particular symptoms and the potential benefits of combination treatment.
This report details treatment of a patient with Gaucher disease type 1 whose main clinical concern was profound thrombocytopenia (around 20 x 10(9)/L, normal range: 150-450 x 10(9)/L) with several episodes of bleeding with minimal trauma and bruises. The patient was treated with ERT at doses up to 60 units/kg weekly, with no improvement in platelet levels for 6 years. Subsequently, the patient transitioned to SRT and platelet levels increased almost two fold within the first month, and have remained stable at safe levels (30-60 x 10(9)/L) for almost 2.5 years at the time of publication.
This report demonstrates a possible therapeutic benefit of SRT in individual patients who do not meet therapeutic goals in terms of thrombocytopenia after a considerable period on first-line ERT treatment. Oral administration of SRT also improved this patient's quality of life allowing discontinuation of weekly ERT infusions, which better accommodated her demanding career and busy lifestyle.
