Endocrine Abstracts

Introduction: Leptin is an adipocyte-secreted hormone that plays a key part in energy homeostasis but also regulates reproductive, neuroendocrine, immune, and metabolic functions. Inflammatory cytokines may affect leptin secretion. Gaucher disease (GD) is autosomal recessive lysosomal storage disorder caused by the deficiency of enzyme glucocerebrosidase (GCD) with consequent massive acumulation of lipid-laden macrophages in various tissues. The pathology of Gaucher disease primarily results from the storage of sphingolipids in tissues throughout the mononuclear phagocyte system with subsequent macrophage activation and tissue inflammation with cytokine production.

Methods: We studied serum leptin concentration in a cohort of 15 patients with type 1 GD with and without enzyme replacement therapy (ERT) (9 females and 6 males, mean age 44.2+/-3.4 years,) and 20 age and BMI-matched healthy control subjects (13 females and 7 males, mean age 40.9+/−3.2 years).

Results: Serum leptin level is significantly higher in patients with GD type 1 as compared with healthy subjects (mean+/-SE, 21.0+/−5.8 vs 6.3+/-1.3 mcg/l respectively). There was no difference in serum leptin level between untreated (n=5) and treated patients (n=10) with type 1 GD. There was positive correlation between body mass index and leptin levels both, in GD patients irrespective of treatment status and healthy controls.

Conclusion: Our results confirm that serum leptin level is significantly higher in patients with type 1 GD in comparison with healthy subjects, and that this elevation is independent of body mass index. Also there was no effect of treatment status on serum leptin levels in GD patients.

Declaration of interest: The authors declare that there is no conflict of interest that could be perceived as prejudicing the impartiality of the research project.

Funding: This research did not receive any specific grant from any funding agency in the public, commercial or not-for-profit sector.