TRAP5b and RANKL/OPG Predict Bone Pathology in Patients with Gaucher Disease

Background and objective: Bone involvement occurs in 75% of patients with Gaucher disease (GD), comprises structural changes, debilitating pain, bone density abnormalities. Osteoporosis is a silent manifestation GD until pathologic fracture occurs. Thus, early diagnosis crucial for identifying high-risk order to prevent irreversible complications. Methods: Thirty-three were assessed prospectively identify predictive markers associated abnormalities, osteopenia (OSN), osteoporosis (OSR). Subjects categorized into three cohorts based on T- or Z-scores mineral (BMD). The first cohort consisted those no complications (Z-score ≥ −0.9; T-scores −1), the second was OSN group (−1.8 Z-score −1; −2.5 T-score third OSR ≤ −1.9; −2.5). Serum levels TRAP5b, RANKL, OPG, RANK quantified by enzyme-linked immunosorbent assays. Results: TRAP5b increased patients, showed positive correlation biomarkers, including plasma glucosylsphingosine (lyso-Gb1) macrophage activation CCL18 chitotriosidase. highest level measured osteoporosis. elevation RANKL RANKL/OPG ratio correlated GD. Conclusion: indicate osteoclast potential biomarker ability predict progression