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Upper limb involvement in patients with Gaucher's disease
1Department of Orthopedic Surgery, Beilinson Medical Center, Petah Tiqva, Israel.
The Journal of Hand Surgery
|September 1, 1993
Summary
Gaucher disease in children and adolescents frequently causes upper limb pain, with many experiencing bone crises or arthritis. Radiographs often reveal osteopenia and cortical thinning, indicating significant bone involvement.
Area of Science:
- Pediatric Rheumatology
- Pediatric Endocrinology
- Rare Genetic Diseases
Background:
- Gaucher disease is a rare lysosomal storage disorder.
- It can affect multiple organ systems, including bones.
- Musculoskeletal manifestations in pediatric Gaucher disease require further characterization.
Purpose of the Study:
- To investigate the prevalence and characteristics of upper limb pain in pediatric patients with Gaucher disease.
- To correlate clinical findings with radiographic changes.
Main Methods:
- Retrospective review of 55 pediatric patients with Gaucher disease.
- Analysis of clinical presentation of upper limb pain.
- Radiographic assessment of hand bones.
Main Results:
- 17 of 55 patients (31%) reported upper limb pain.
- Bone crisis (11 patients) and non-specific pain (7 patients) were common.
- Radiographs showed osteopenia and cortical thinning in 50% of patients.
Conclusions:
- Upper limb pain is a significant clinical feature in pediatric Gaucher disease.
- Radiographic evidence of bone disease is prevalent, even in patients with non-specific pain.
- Early recognition and management of skeletal complications are crucial.