Evaluating biomarkers for diagnosis and treatment monitoring in gaucher disease
Articles > Article · 2024
Authors: Havva YAZICI, Fehime ERDEM KARAPINAR, Merve Yoldaş Çelik, Erhan CANBAY, Ebru CANDA, Ebru SEZER, Sema KALKAN UÇAR, ESER YILDIRIM SÖZMEN, Mahmut ÇOKER
Ege Tıp Dergisi, National Refreed University Journal, National, TR DİZİN (ULAKBİM), 2024, vol 63, pp 513-523
DOI: 10.19161/etd.1478953
Summary
Aim/Objective: The primary goal of this study is to explore the impact of consistent treatment on key disease marker, Lyso-Gb1. Additionally, this research aims to evaluate the influence of splenectomy on Lyso-gb1 concentrations within the patient group. Materials and Methods: 37 patients diagnosed with GD were categorized based on treatment compliance into three groups: 28 in the regular treatment group, who consistently followed their treatment; 6 in the irregular treatment group, with inconsistent treatment adherence; and 3 in the untreated group. A control group of 33 healthy individuals without GD was also included. Enzyme replacement therapy was utilized as the treatment regimen. The analysis of Lyso-Gb1 levels was performed using liquid chromatography coupled with tandem mass spectrometry, ensuring high precision in measurement. Results: Lyso-Gb1 levels were significantly higher in GD patients compared to the healthy control group (p<0.05), affirming its potential as a specific biomarker. Treatment was associated with a reduction in Lyso-Gb1 levels (p<0.05). No significant difference in Lyso-Gb1 levels was observed between treated patients with Type 1 and Type 3 GD (p>0.05). Notably, patients who underwent splenectomy exhibited significantly higher Lyso-Gb1 levels than those who did not (p<0.05). Conclusion: Our findings support the utility of Lyso-Gb1 as a specific biomarker for GD. While pre-treatment Lyso-Gb1 levels in the treated group remain unknown, our results underscore the need for larger, longitudinal studies to further elucidate Lyso-Gb1's role in monitoring disease progression and treatment efficacy in GD.