Focal splenic lesions in type I Gaucher and ERT response

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Focal splenic lesions in type I Gaucher disease are associated with poor platelet and splenic response to macrophage-targeted enzyme replacement therapy.

Stein P, Malhotra A, Haims A, Pastores GM, Mistry PK. J Inherit Metab Dis. 2010 Dec;33(6):769-74. Epub 2010 Aug 4.

This study reports that focal splenic lesions (FSL) in Gaucher disease type I (GD1) are a determinant factor of response to ERT. Moreover, FSL are associated  with more severe manifestations of GD1 such as more severe thrombocytopenia, avascular osteonecrosis, and  greater frequency of pre-ERT, as well as, post-ERT splenomegaly.

posted by Yannis Trakadis, MD

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