Evaluation of endocrinological involvement and metabolic status in patients with Gaucher disease Type 1 and Fabry disease under enzyme replacement therapy.

OBJECTIVES

Gaucher disease type 1 (GD1) and Fabry disease (FD) are the two most common lysosomal storage diseases. For over three decades, effective enzyme replacement therapies (ERTs) have changed the fate of patients and offered a longer chance of survival and improve their quality of life.

METHODS

The clinical and molecular findings, endocrinological features and metabolic status of 26 patients (16 with FD, and 10 with GD1) were evaluated. The results were compared to age- and gender-matched healthy individuals.

RESULTS

Patients with GD1 and FD were followed for 7.2 ± 4.7 and 6.4 ± 4.3 years, respectively. Calcium and magnesium levels in patients with GD1 were lower than in controls (p=0.01; p=0.002). Osteoporosis was detected in 20% (n=2) of GD1 patients and 12.5% (n=2) of FD patients. The HbA1c value of GD1 patients was significantly lower than both in control and Fabry patients (p=0.004; and p=0.007, respectively). There was a negative correlation between LysoGb3 and female gender (p=0.04; r=-0.49), but no correlation was found with any other biochemical parameters. There was a negative correlation between the LysoGb1 level and the neutrophil (p=0.03; r=-0.711) and thrombocyte levels (p=0.02; r=-0.767), and a positive correlation with ferritin levels (p<0.001; r=0.867).

CONCLUSION

Long time effective ERT seems to have beneficial effects on metabolic and hormonal status as well as primary target organs in both FD and GD1 patients.