The correlation between bone biomarkers, glucosylsphingosine levels, and molecular findings in Gaucher type 1 patients under enzyme therapy

Abstract

Objectives We aimed to determine the relationship of Lyso-Gb1 levels, bone biomarkers, and mutation findings with bone marrow burden (BMB) scores. Methods Lyso-Gb1 and bone biomarkers, and BMB scores of 10 Gaucher type 1 (GD1) patients under enzyme therapy were prospectively evaluated. Results Ten GD1 patients, aged between 4.5 and 40 (mean 23 +/- 11 years), were included in the study. Four patients were homozygous for L444P/L444P, and six patients were compound heterozygous for N370S/R415H. We found positive correlations between pain and BMB scores with Lyso-Gb1 levels (r=0.889, p=0.001 and r=0.701, p=0.035, respectively). There were negative correlations between bone mineral density (BMD) of both the lumbar spine and femoral neck between Lyso-Gb1 levels (r=-0.929, p=0.001 and r=-0.893, p=0.007, respectively). Patients with L444P/L444P mutation had higher Lyso-Gb1 levels and BMB, pain scores and lower BMD measurements than patients with N370S/R415H (p=0.01, p=0.02, p=0.03, p=0.04, p=0.04, respectively). Conclusions There was an apparent correlation between, Lyso-Gb1 levels, BMB scores and genotype in evaluating bone involvement in Gaucher patients.