Gaucher disease is a rare
genetic disorder caused by the deficiency of
acid β-
glucosidase to effectively catalyze the degradation of
glucosylceramide to
glucose and
ceramide. We report here the case of a 31-year-old male Japanese patient with
Gaucher disease who switched from
enzyme replacement therapy (ERT) to substrate reducing
therapy (SRT).
Liver dysfunction was identified at a routine medical checkup, and the patient was referred to our hospital with "idiopathic
liver disease." Clinical laboratory tests indicated
thrombocytopenia and
splenomegaly, which are characteristic symptoms of
Gaucher disease. To definitively diagnose
Gaucher disease, a bone marrow biopsy and
acid β-
glucosidase activity measurement were conducted; the results supported a diagnosis of
Gaucher disease. This case emphasizes that it is possible for periodic medical checkups in adults to lead to the diagnosis of rare
genetic disorders. The patient underwent ERT treatment with
imiglucerase for 5 years; the platelet count rapidly increased and the spleen size rapidly decreased, indicating a good response to the drug. However, the patient increasingly felt the burden of visiting the hospital for 2 h of infusion ERT every 2 weeks. Consequently, it was jointly decided that he should switch from ERT to SRT with an oral drug. This switch was successful with no deterioration of laboratory data. This case report is the first to describe a Japanese
Gaucher disease patient treated with
eliglustat for >2 years. We showed that SRT is a well-tolerated and effective option for the treatment of
Gaucher disease.