Background Gaucher disease is a hereditary metabolic disorder characterised by deficiency of the lysosomal enzyme β-glucocerebrosidase which catalyses the hydrolysis of glucosylceramide to glucose and ceramide. This causes accumulation of glucosylceramide within the lysosomes with systemic manifestations consisting of bone and haematological abnormalities and visceromegaly.

Purpose To describe the course of a patient diagnosed with Gaucher disease in whom the treatment she was receiving with imiglucerase was replaced by miglustat, an oral drug also indicated for Gaucher disease.

Materials and methods Review of patient history and recording of biomarkers of the disease: Chitotriosidase activity (nM/mL.h) and CCL-18 PARC concentration (ng/mL). Blood count data were collected: platelets, haemoglobin, and white blood cells.

Results Miglustat treatment was between November 2009 and March 2010, reintroducing imiglucerase in April 2010. Before starting miglustat the patient had the following values: chitotriosidase 1432 nM/mL.h and CCL-18 PARC of 367 ng/mL, 127000 platelets/μL, haemoglobin 13.4 g/dl and 4200 WBC/μl with good general condition. In March 2010, laboratory tests were: chitotriosidase 2546 nM/ml.h and CCL-18 PARC of 561 ng/mL, 113000 platelets/μL, haemoglobin 12.4 g/dl and 4400 WBCs/μL. During this period, the patient did not worsen clinically but showed tremor, flatulence, and mild diarrhoea during treatment with miglustat.

Conclusions The increase in markers after switching shows disease worsening. Switching to the oral route may seem an improvement in quality of life.