The Role of Pediatrician in Gaucher Disease

Gaucher Disease is the most common lysosomal storage disorder. It is usually underdiagnosed due to its wide clinical spectrum. Physicians should have high index of suspicious for GD diagnosis in any patient with splenomegaly/Hepatology with thrombocytopenia. Early enzyme replacement therapy is a cornerstone to prevent and reverse disease complications.

MAT-SA-2200307-V1-APRIL-2022