BACKGROUND: Gaucher disease is a rare lysosomal storage disease resulting from a 
deficiency or reduced activity in the acid β-glucocosidase enzyme. Only 1 
treatment option was available for 15 years, but several new treatment options 
have come to market since 2003.
OBJECTIVE: The article will detail the pathophysiology and review current 
therapies in the literature for all 3 major clinical types of Gaucher disease, 
with a focus on considerations for selecting therapy in type 1 disease.
METHODS: Extracted and summarized applicable studies and reviews from Cochrane 
Review, ClinicalTrials.gov, CINAHL, IPA, and PubMed.
RESULTS: Enzyme replacement therapy is preferred for the management of Gaucher 
disease. Current literature does not favor any enzyme replacement product over 
another. However, velaglucerase alfa and taliglucerase alfa theoretically have a 
lower risk of immunogenicity reactions compared with imiglucerase. Alternative 
treatments for type 1 disease include substrate reduction therapy; however, 
these treatments require evaluation of patient-specific variables (eg, genotype 
evaluation, renal function) and consideration of adverse effect and dosing 
profiles. Evaluation of current literature found no substrate reduction therapy 
is preferred over another. There are no approved therapies for type 2 and type 3 
disease, but enzyme replacement therapy may be used with limited efficacy for 
symptom management.
CONCLUSION: Enzyme replacement therapy is preferred for treating type 1 Gaucher 
disease and substrate replacement therapy may be considered in patients who do 
not tolerate or cannot receive enzyme replacement therapy.