Efficacy of magnetic resonance imaging in managing glycogen storage disease.

Abstract

Background: Glycogen storage disease (GSD) is a rare genetic disorder requiring continuous management. It poses a risk of progression to hepatocellular adenoma (HCA) and hepatocellular carcinoma. While ultrasonography is the primary imaging modality to monitor liver health, it has limitations in assessing liver size and detecting HCAs, which can be addressed by magnetic resonance imaging (MRI). This study was conducted to evaluate the efficacy of MRI in the proactive management of GSD and its ability to predict HCA.

Methods: This study included 32 patients with GSD from Wonju Severance Christian Hospital, of whom 29 underwent MRI examinations. Baseline characteristics, such as sex, height, weight, and body surface area (BSA), were recorded, along with laboratory markers. The MRI protocols included T2-weighted axial and coronal imaging, proton magnetic resonance spectroscopy, multi-echo Dixon imaging, magnetic resonance elastography, and T1 mapping. The correlation between liver volumes and laboratory results was analyzed, and logistic regression was used to analyze the association between the liver volume/BSA ratio and adenoma occurrence.

Results: A significant correlation was observed between a high liver volume-to-BSA ratio and the likelihood of HCA development. Receiver operating characteristic curve analysis showed an area under the curve of 0.816 for predicting HCAs and a C-index of 0.847, indicating that MRI had high predictive accuracy. For each unit increase in the liver volume-to-BSA ratio, the probability of HCA increased by 1.005.

Conclusion: MRI is valuable for assessing adenoma formation in patients with GSD. Although not intended for routine surveillance of all patients, MRI can be selectively used in high-risk cases to enable early detection and timely intervention, thereby reducing the risk of progression to malignant transformation.