Jeff Szer

Background Magnetic Resonance Imaging is used for evaluation of bone in Gaucher disease (GD), but a widely available quantitative scoring method remains elusive. Aims The study purpose was to assess the reproducibility of the LiverLab tool for assessing bone marrow fat fraction (FF) and determine whether it could differentiate GD patients from healthy subjects. Methods Ten healthy volunteers and 18 GD patients were prospectively recruited. FF was calculated at L3, L4 and L5. GD patient bone marrow burden (BMB) score assessed by one observer. Inter and intra‐rater agreement assessed with Bland–Altman data plots. Differences in FF between healthy volunteers versus GD patients and between subjects treated versus not treated assessed using two‐sample t ‐tests. In GD patients, the relationship between FF, BMB and glucosylsphingosine was determined using the Pearson's correlation coefficient. Results Healthy volunteer mean FF was 0.36, standard deviation (SD) 0.10 (range 0.20–0.57). Intra and inter‐rater SD were both 0.02. GD patient mean FF was 0.40, SD 0.13 (range 0.09–0.57). No statistical difference was shown between healthy volunteers and GD patients ( P = 0.447) or between GD patients whether on enzyme replacement therapy or not ( P = 0.090). No significant correlation between mean FF and total BMB ( r = −0.525, P = 0.253) or between FF and glucosylsphingosine levels ( r = 0.287, P = 0.248). Conclusion Excellent reproducibility of LiverLab FF measurements across studies and observers is comparable to Dixon quantitative chemical shift imaging (QCSI). Lack of statistical difference between GD patients and controls may be explained by limited patient numbers, active treatment or mild disease severity in untreated patients.