Diagnostic Utility of Plasma Chitotriosidase, Total Acid Phosphatase Activity, Ferritin and Globulin Levels in Screening for Gaucher Disease

Aims: Gaucher disease "GD" is one of the most common glycolipid storage disorders. Several circulating molecules thought to be secreted by Gaucher cells have been studied as biological markers of disease. We investigate and compare the validity of using plasma chitotriosidase "ChT", total acid phosphatase activity, ferritin, and globulin in predicting GD in pediatric patients.

Methodology: A cross sectional hospital based study, carried out on 43 pediatric patients (23 GD patients and 20 patients with suspected storage disorder). Complete blood counts, globulin assays, calculated A/G ratio, β-glucocerebrosidase activity assays, plasma protein electrophoresis, ELISA assays of plasma ChT and ferritin, colorimetric assay of plasma total acid phosphatase activity and GBA gene mutation analysis, were done for the included patients.

Results: Significantly higher plasma ChT levels and increased total acid phosphatase activity were observed in GD patients versus those suspected to have storage disorders (P-value <0.05). High plasma ChT and ferritin have higher sensitivity, while high plasma total acid phosphatase activity, and globulin and low A/G ratio have higher specificity in diagnosing GD.

Conclusions: Plasma ChT and total acid phosphatase activity, both together are more valid than ferritin and globulin in screening for GD.