Gaucher disease (GD) is the most common lysosomal storage disorder and arises from pathogenic variants in GBA1 that reduce glucocerebrosidase activity, leading to lysosomal accumulation of glucosylceramide and related metabolites in macrophages. 1 Although rare, GD has major relevance to hematology because many of its earliest and most persistent manifestations fall within routine hematology practice, including splenomegaly, anemia, thrombocytopenia, bleeding symptoms, marrow infiltration, paraproteinemia, and skeletal complications that may mimic malignant or inflammatory disease. 2 Delayed diagnosis remains common, and surveys suggest that awareness among hematologists is better than in some other specialties but still incomplete, especially when disease presents atypically or with mild phenotypes. 3 This creates a strong case for formal integration of GD into mainstream hematology training. The purpose of this editorial
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Bradley et al. (2026) studied this question.
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