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

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Abstract
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.

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