- •Gaucher disease type 1(GD1) and acid sphingomyelinase deficiency (ASMD) overlap for several signs or symptoms.
- •Splenomegaly is present in approximately 90% of the patients in both conditions.
- •Both diseases are underdiagnosed, especially ASMD.
- •We provide an algorithm for both conditions to support physicians, including primary care providers, internists, and specialists, to suspect and differentiate GD1 and ASMD.
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