Liver MR elastography in Gaucher disease: Longitudinal association with disease severity

Patients with Gaucher disease (GD) require lifelong monitoring of visceral involvement. The GD type 1 disease severity scoring system (GD1-DS3) is commonly used for longitudinal assessment but is clinically intensive and not imaging-based. The goal of this study was to evaluate whether liver magnetic resonance elastography (MRE) is associated with longitudinal changes in disease severity.

This retrospective longitudinal study included patients with GD who underwent ≥1 liver MRE between April 2019 and April 2025. Clinical data were used to calculate GD1-DS3 scores, and imaging parameters including liver stiffness were extracted from MR imaging reports. Longitudinal associations between liver stiffness and GD1-DS3 scores were evaluated using linear mixed-effects models with random intercepts to account for repeated measurements, adjusting for age, sex, treatment group, spleen stiffness, and time.

Forty-two individuals (90.5% type 1 GD) with 77 MRE examinations were analyzed. Over time, GD1-DS3 scores decreased modestly (0.24 units per year, p = 0.036). Liver stiffness was independently associated with disease severity: Each 1 kPa increase in liver stiffness corresponded to a 0.53-unit increase in GD1-DS3 score (p < 0.01) after adjustment for covariates. Liver stiffness remained a significant predictor of GD1-DS3 severity independent of time.

Liver stiffness independently predicted GD1-DS3 severity after adjusting for time and covariates. These findings support liver MRE as a valuable noninvasive imaging biomarker for longitudinal monitoring of hepatic involvement and composite clinical severity in patients with GD.