Bone involvement in Gaucher disease: Data from a North African registry

Area of Science:

• Biochemistry
• Genetics
• Hematology

Background:

• Gaucher disease (GD) results from glucocerebrosidase deficiency, causing glucocerebroside accumulation.
• Skeletal involvement is a common systemic manifestation of Gaucher disease.
• Evaluating bone involvement (BI) and treatment impact is crucial for managing GD patients.

Purpose of the Study:

• To assess the prevalence and characteristics of bone involvement (BI) in Gaucher disease (GD).
• To evaluate the impact of enzyme replacement therapy (ERT) and substrate reduction therapy (SRT) on bone health in GD patients.

Main Methods:

• Data from 74 patients in the Tunisian GD registry were analyzed.
• Bone involvement was assessed using skeletal X-rays, MRI, and bone mineral density scans.
• Treatment outcomes for ERT and SRT were evaluated at final follow-up.

Main Results:

• Bone involvement (BI) was observed in 65% of GD patients, manifesting as bone pain, deformities, lytic lesions, osteonecrosis, and marrow infiltration.
• Bone mineral density revealed osteoporosis in 14% and osteopenia in 35% of patients.
• Therapies showed a trend towards improving bone pain and bone density, but statistical significance was limited by small sample sizes.

Conclusions:

• Bone involvement is a highly prevalent complication in Gaucher disease.
• Specific GD therapies demonstrated a potential positive trend on bone health indicators.
• Delayed diagnosis and limited treatment access pose significant challenges in managing GD, particularly bone complications.