5PSQ-006 Use of substitute enzymatic treatment and substrate reduction in gaucher disease

Background Gaucher disease is included within lipidosis that occur due to mutations in the gene encoding the enzyme s-glucosidase. As a result of this, a fatty substance accumulates, the glucocerebroside that is the cause of disease manifestations such as anaemia, thrombocytopaenia, hepatosplenomegaly and bone injuries. Available therapeutic options include enzyme replacement therapy (ERT) or substrate reduction (SRT) to prevent glucocerebroside accumulation. Purpose To describe the use of ERT and SRT in patients with Gaucher disease. Material and methods Retrospective observational study of all patients diagnosed with Gaucher disease in our area, followed up in our hospital and in treatment with ERT or SRT. Respective electronic medical records and analytics were reviewed to collect the following data: sex, age, symptomatology of Gaucher disease at the time of diagnosis, value of chitotriosidase before and after starting treatment, and adverse reactions to it. Results A total of four patients (two males and two females) with an average age of 50 years were included. All patients had type1 Gaucher disease (not neuropathic). The initial treatment was miglustat (SRT) in three patients and velaglucerase (ERT) in one of them. The value of chitotriosidase before the start of treatment had a mean value of 11034 nmol/h/mL (7184–12777) and after treatment it was 1536 nmol/h/mL (239–3973). All the patients presented at the beginning with typical manifestations of type 1 Gaucher disease as bone affectation (three), hepatosplenomegaly (three), anaemia (two) and thrombopaenia (two). Regarding the safety of the SRT, treatment with miglustat was started in three patients. It was finished in two cases due to bone progression and in one case due to poor tolerance (paresthaesia, diarrhoea, tremor and weight loss) and the TES was switched to imiglucerase or velaglucerase, which were well tolerated in all patients. All the patients presented improvement in the symptoms of Gaucher disease when starting ERT. Conclusion TRS with miglustat is a convenient option due to its oral administration, although in three patients who were initially administered, it had to be suspended due to poor tolerance or progression. ERT has been shown to be effective and safe, and, despite not being curative, an improvement and even remission of certain symptoms of the disease has been proven. References and/or acknowledgements https://ejhp.bmj.com/content/21/Suppl_1/A38.1 No conflict of interest.