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 Â with more severe manifestations of GD1 such as more severe thrombocytopenia, avascular osteonecrosis, and Â greater frequency of pre-ERT, as well as, post-ERT splenomegaly.
posted by Yannis Trakadis, MD