The following article features coverage from the 17th Annual WORLDSymposium meeting. Click here to read more of MPR’s conference coverage.

A report presented at the 17th Annual WORLDSymposium describes the case of a 53-year-old female patient with Gaucher disease who developed persistent thrombocytopenia that was treated with eltrombopag.

The patient, who was initially diagnosed with Gaucher disease type 1 during her first pregnancy 20 years prior, presented with bleeding, hematomas, and thrombocytopenia, in addition to hepatomegaly, splenomegaly, and bone marrow infiltration. A diagnosis of autoimmune thrombocytopenia (ITP) was made and prednisone was initiated. However, no response was observed after 1 month on the steroid and treatment with eliglustat, a glucosylceramide synthase inhibitor, was started.

While improvements in biomarkers were observed following a year of treatment with eliglustat, her platelets continued to be low. Treatment with eltrombopag was initiated and led to an increase in platelets within 2 weeks and near normal levels after 4 months.

Eltrombopag is an orally bioavailable, small-molecule thrombopoietin receptor agonist that interacts with the transmembrane domain of the human TPO-receptor and initiates signaling cascades that induce proliferation and differentiation from bone marrow progenitor cells.  It is currently approved by the Food and Drug Administration for the treatment of thrombocytopenia in patients with chronic immune thrombocytopenia.

“Although other immunosuppressive drugs can be used, eltrombopag has the advantage of stimulating thrombopoiesis without blocking the immune system,” the authors noted. Based on the findings of this report, they concluded that for patient with Gaucher disease and ITP, eltrombopag is effective and can be used safely with eliglustat.


Morado M, Salces MM, Yuste VJ. Persistent thrombocytopenia in Gaucher disease (GD): a case report. Presented at: 17th Annual WORLDSymposium; February 8-12, 2020. Poster#162.