OBJECTIVE: To investigate the correlations among the extent of bone involvement, splenic volume, and quality of life in patients with Gaucher disease. MATERIALS AND METHODS: This was a descriptive, prospective cross-sectional study of 18 patients with Gaucher disease who underwent 3-T magnetic resonance imaging of both femurs and the lumbar spine. Semiquantitative analyses were performed on the basis of the bone marrow burden (BMB) score. We looked for linear relationships among the variables splenic volume, quality of life score, and BMB score. RESULTS: We identified a linear relationship between the BMB scores and splenic volume. The quality of life score showed no statistically significant relationship with splenic volume or the BMB score. CONCLUSION: The linear relationship between the BMB score and the splenic volume indicates that the extent of bone disease is greater in individuals with splenomegaly. No correlation was found between the BMB and quality of life scores, illustrating the insidious and silent progression of Gaucher disease.

Keywords: Gaucher disease; Magnetic resonance imaging; Musculoskeletal system; Hematologic diseases.