Background The imiglucerase drug shortages in 2009 forced a change in the treatment of many patients with Gaucher’s disease.

Purpose To describe the clinical outcomes of an adult patient with type 1 Gaucher’s disease (GD1) after discontinuation of imiglucerase therapy due to the temporary drug shortage in 2009.

Materials and methods We aimed to evaluate the clinical course of a patient who had to stop Imiglucerase treatment. Data were collected from the patient’s clinical records, and the following clinical and laboratory parameters were recorded before and after the drug shortage period: haemoglobin concentration, platelet count, alkaline phosphatase levels, hepatomegaly, splenomegaly and Eastern Cooperative Oncology Group (ECOG) Performance Status Scale. A direct cost analysis during the period of treatment suspension was also conducted.

Results An adult patient GD type 1, treated with imiglucerase 15 IU/Kg every two weeks was forced to withdraw from treatment for 15 months due to the imiglucerase shortage. The parameters at the start and the end of the no-treatment period were: haemoglobin concentration (16.9–18.1 gr/dl), platelet count (114000–60000 mm³), and alkaline phosphatase (69–71 IU/l). Echographical monitoring of liver or spleen volumes was not performed, the ECOG value remained at 0. No hospitalisations or other treatments or transfusions were needed because of worsening signs or symptoms during this period. When the drug became available again, the patient started the treatment again with 15 IU/Kg extending the schedule to four weeks. The cost savings due to non-acquisition of the drug were 149,800 €.

Conclusions Drug withdrawal did not cause substantial modifications in the laboratory values and no clinical consequences were reported. There was an important reduction in health costs due to the high price of the drug. Further studies would be required to recommend the programmed suspension of the drug in similar patients.

No conflict of interest.