EVENT BASED TREATMENT OUTCOMES OF PATIENTS WITH GAUCHER DISEASE: A DIFFERENT PERSPECTIVE

Background

Gaucher Disease (GD) is a lysosomal storage disease caused by mutations in GBA gene, leading glucocerebrosidase enzyme deficiency. Main clinical presentations are cytopenia,hepatosplenomegaly,bone involvement and, in neuronopathic forms neurological impairment. It has been shown that enzyme replacement therapy(ERT) results in decreases in spleen and liver volumes, improves hemoglobin and platelet count, reduces bone pain or crises.

Although it is also obvious that there is a need for real world data such as abdominal pain and discomfort, malnutrition, painful bone crises, bleeding, growth retardation, delayed puberty, pulmonary involvement, fatigue. The aim of this study is to evaluate event-based outcomes in GD patients receiving ERT.

Methods

Patients with GD followed up at the Department of Inborn Errors of Metabolism in Gazi University Faculty of Medicine were included. Events were determinated such as bleeding (epistaxis,postoperative abnormal bleeding),necessity of transfusion,abdominal distention (causing vomiting,constipation or umbilical hernia),respiratory systems symptoms (increased respiratory effort for daily activities,symptoms requiring medication or inhaler therapy,frequent infections), pain(requiring the use of analgesics, interfering with daily activities),bone diseases(fractures, avascular necrosis, need to use walking aids or wheelchair),ability to perform daily activities(doing it by one’s own or inability to go to work or school),short stature(requiring use of growth hormone therapy),pubertal problems(puberty precox,puberta tarda,menstrual irregularity requiring hormone replacement therapy or abnormal menstrual bleeding) and death.

Events were evaluated retrospectively before and after 1year form initiation of ERT and all events were evaluated every six months.

Results

A total of 18 patients were included, 10 females and eight males, with a mean age of 13,8 years. Three patients were diagnosed chronic neuronopathic type of GD, 15 patients non-neuronopathic GD.

The most common events before the initiation of ERT was bleeding (13 events) and most significant decrease in number after ERT was also bleeding events.

Total number of events before one year of initiation of ERT was 25 and after one year after ERT only one new event was seen. Abdominal distention event, respiratory system event and death event were never seen in any patients during time one year before and after ERT

Conclusion

Over all events decreased after initiation of ERT in all patients. The most common event before ERT and the most striking decrease was bleeding problems. Also time of initiation of ERT could determine puberty onset time and consequently growth because it is known that the effect of ERT on growth could diminished after puberty. Long-term follow-up may be required for respiratory event. This study showed the importance of monitoring all these events to provide better patients follow up.