Insights into skeletal involvement in adult Gaucher disease: a single-center experience.

Introduction: Gaucher disease (GD) is a lysosomal storage disorder causing systemic and skeletal complications. This study evaluates bone health in adult GD type 1 patients, focusing on skeletal complications, bone mineral density (BMD), and biochemical markers.

Material and methods: A cohort of adult GD type 1 patients followed up at Ege University Pediatric Metabolism Department were retrospectively examined.

Results: This study included 32 patients with GD type 1, comprising 11 males (34.4%) and 21 females (65.6%). The median age at diagnosis was 20.5 years (min: 3-max:65), and at enrolment, it was 35 years (min:18-max:71). Most patients (93.8%) had organomegaly, and 93.8% had cytopenia. Common genetic variants were p.Asn409Ser (60.9%), p.Leu483Pro (7.8%), and p.Asp448His(4.7%). All patients were on enzyme replacement therapy (ERT) for a median of 11 years (min:2-max:18). Bone complications included pathologic fractures in six patients (19%) and avascular necrosis in 12 patients (37.5%). Bone pain was reported by 93.7% of patients at admission and persisted in 59.4% during follow-up. DXA scans showed abnormal bone mineral density (BMD) in 62.5% of patients initially, with a significantly low bone density in 3.1% and reduced bone density in 59.3%. BMD improved with treatment, as evidenced by a significant increase in Z scores (p < 0.05). Elevated chitotriosidase (75%), ferritin (50%), and immunoglobulin G (21.9%) levels were noted but did not correlate with BMD. Seven patients (22%) were splenectomized, all with bone issues.

Discussion: Bone health in GD involves multiple factors beyond biochemical markers. While ERT improves BMD, bone pain and fractures remain significant issues. Comprehensive management, including regular BMD monitoring and better vitamin D supplementation adherence, is crucial. Further research is needed to improve treatments for bone complications in GD.