Biomarkers in Serbian patients with Gaucher disease

Abstract

Objectives: The aim of the study was to evaluate the efficiency of the biomarkers chitotriosidase (Chito), total acid phosphatase (TACP), angiotensin converting enzyme (ACE) and ferritin in the diagnosis of Gaucher disease (GD) and to assess the utility of biomarkers for monitoring the effects of enzyme replacement therapy (ERT).

Design and methods: Forty treatment-naive Gaucher patients were studied. 27/40 GP were put on ERT and monitored every 6 months.

Results: The baseline median values of Chito, TACP, ACE and ferritin were highly elevated in GP: 10216 nmol/mL/h, 26.1 U/L, 253 U/L, 515 μg/L, and 555 μg/L, respectively. The only significant difference between mild and moderate GP subgroups is observed for Chito activity (p=0.0116). During ERT, Chito showed the steepest decrease in regard to TACP and ACE, mainly within the first year (71.4%).

Conclusions: Among these biomarkers, Chito proved to be the most useful biomarker for diagnosing GD and monitoring the ERT.