Liver stiffness scans may help track Gaucher disease severity over time
MRE may detect subtle changes before advanced liver disease develops
Written by |
Measuring liver stiffness using a noninvasive imaging technique called magnetic resonance elastography (MRE) may help track disease severity and progression in people with Gaucher disease, a recent study shows.
The technique, which combines MRI with low-frequency vibrations to measure organ stiffness, may detect subtle liver changes before more advanced liver disease develops, according to the researchers.
“These findings support use of MRE-based liver stiffness as a valuable noninvasive imaging biomarker for ongoing disease monitoring and highlight its potential role in … longitudinal assessment of visceral [organ] involvement in [Gaucher disease],” the scientists wrote.
Study tests MRE as a tool for Gaucher disease monitoring
The study, “Liver MR elastography in Gaucher disease: Longitudinal association with disease severity,” was published in Molecular Genetics and Metabolism.
Gaucher disease is caused by a lack of functional glucocerebrosidase (GCase), an enzyme that breaks down a fatty molecule called glucocerebroside. Without enough functional GCase, glucocerebroside builds up in certain cells. These cells can then accumulate in tissues, including the spleen, liver, and bone marrow, contributing to a range of disease symptoms.
People with Gaucher need lifelong monitoring for complications and disease progression. The Gaucher disease type 1 disease severity scoring system (GD1-DS3), which considers bone, blood, and internal organ involvement, is commonly used to track disease severity over time.
However, calculating the score requires combining multiple clinical measures, and scores can vary between observers and over time. Its assessment of internal organ involvement largely relies on measuring the size of the liver and spleen — which are commonly enlarged in Gaucher — but it does not directly assess tissue changes such as scarring, inflammation, or Gaucher cell infiltration.
According to the authors, a sensitive imaging biomarker could help track these internal organ changes and Gaucher disease progression over time.
Here, researchers evaluated whether liver MRE could be used to track disease severity over time. They retrospectively analyzed data from 42 people with Gaucher disease, whose mean age was 30.9 years, who underwent at least one MRE assessment from 2019 to 2025 at the Children’s Hospital of Philadelphia.
Almost all participants (90.5%) were diagnosed with Gaucher disease type 1, while four people had type 3 disease. The same percentage, 90.5%, were receiving either enzyme replacement therapy or substrate reduction therapy at the time of their last evaluation.
Overall, researchers found a small but statistically significant association between liver stiffness measured by MRE and GD1-DS3 scores, with greater liver stiffness associated with greater disease severity. Similar associations were observed between liver or spleen volume and GD1-DS3 scores.
However, all of the observed correlations were relatively weak. Liver fat and spleen stiffness were not linked to disease severity scores.
Liver stiffness tracks with disease severity over time
Over time, GD1-DS3 scores decreased by an average of 0.24 points per year, a small but statistically significant decline. Higher liver stiffness was associated with more severe disease, with each 1 kilopascal (kPa) increase in stiffness corresponding to an average 0.53-point increase in the GD1-DS3 score.
The association remained similar after excluding patients with type 3 Gaucher disease — for whom the GD1-DS3 is not formally validated — indicating that including these patients did not substantially change the main finding.
“This magnitude of association is clinically meaningful … and supports liver stiffness as a potentially useful quantitative imaging biomarker associated with visceral [organ] disease severity,” the researchers wrote.
The researchers noted that liver stiffness measurements were generally below levels typically associated with advanced scarring or cirrhosis, suggesting that MRE may detect subtler liver changes related to Gaucher disease before overt chronic liver disease develops.
Importantly, liver stiffness remained associated with disease severity after accounting for time, suggesting MRE may provide information beyond routine laboratory tests and measurements of liver and spleen size.
“Liver stiffness measurements may help identify patients at risk for progressive [liver] disease, guide therapeutic decision-making, and provide an objective imaging endpoint for longitudinal monitoring,” they wrote.
The researchers identified the study’s retrospective, single-center design and changes in imaging protocols over time as limitations. They noted that further “multicenter studies are warranted to validate these findings and further define the role of MRE in clinical management and therapeutic monitoring.”
