Skeletal Involvement in Gaucher Disease: Extent of Bone Disease, Splenic Volume, and Quality of Life

Radiol Bras Mar-Apr 2021;54(2):71-76. doi: 10.1590/0100-3984.2020.0014.

PMID: 33854259

Ricardo Andrade Fernandes de Mello, Melissa Bosi Nonato Mello, Laís Bastos Pessanha

Highlights: In Gaucher patients, the possible correlations between the extent of bone involvement, splenic volume, and quality of life were investigated. No correlation was found between the BMB and quality of life scores, this finding highlights Gaucher disease's insidious and silent progression.

Abstract

Objective: The goal of this study was to investigate the possible correlations between the extent of bone involvement, splenic volume, and quality of life in Gaucher disease patients.

Materials and methods: This was a descriptive, prospective cross-sectional study of 18 Gaucher disease patients who had 3-T magnetic resonance imaging of both femurs and lumbar spine. The bone marrow burden (BMB) score was used to perform semiquantitative analyses. The variables splenic volume, quality of life score, and BMB score were examined for linear relationships.

Results: The BMB scores and splenic volume have a linear relationship, according to our findings. The splenic volume or the BMB score had no statistically significant relationship with the quality of life score.

Conclusion: The linear association between the BMB score and the splenic volume shows that the individuals with splenomegaly have a bone disease with greater extent. No correlation was found between the BMB and quality of life scores, this finding highlights Gaucher disease's insidious and silent progression.

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