Gaucher Disease Differential Diagnoses

Updated: Oct 05, 2023
  • Author: Ellen Sidransky, MD; Chief Editor: Maria Descartes, MD  more...
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Diagnostic Considerations

The diagnoses below are seen with an increased frequency in individuals with Gaucher disease.

Multiple myeloma

Parkinson disease: This is more common in patients with Gaucher disease and GBA1 mutation carriers. Subjects with Parkinson disease are more than 5 times more likely to have a mutation in the glucocerebrosidase gene. [14, 15]

Lewy body dementia: Patients with Lewy body dementia are also far more likely to carry a mutation in GBA1. [16]

Differential Diagnoses