Evaluation of Ultrasound-Based Parameters for the Assessment of Hepatic Steatosis and Fibrosis in Hungarian Wilson’s Disease Patients

Background: Wilson’s disease (WD) is a genetic disorder of copper metabolism with over 600 disease-causing mutations, leading to variable hepatic and neurological symptoms. Early diagnosis and treatment are crucial. To evaluate hepatic involvement, serum scores and non-invasive imaging techniques complement histology. Methods: This pilot study assessed the utility of ultrasound-based tissue attenuation imaging (TAI), tissue scatter distribution imaging (TSI), and shear-wave elastography (SWE) for quantifying steatosis and fibrosis in WD. Results: Among 131 treated patients, 53 (mean age 40.5 ± 13.1 years, M/F = 35/18) underwent measurements. Based on literature-validated thresholds, 41 patients did not have significant liver fibrosis, 5 patients had moderate (F2) and 4 advanced (F3) fibrosis, while 3 patients had cirrhosis. The LS (liver stiffness) was in moderate correlation with FIB-4 (r = 0.306, p < 0.03), NAFLD fibrosis index (r = 0.336, p < 0.02), and APRI (r = 0.31, p = 0.0857). Among the WD patients, 37 had no steatosis (S0), 14 had mild steatosis (S1), and 2 had intermediate steatosis (S2); none of them had severe steatosis (S3) based on UEFF calculation. LS correlated positively with calculated free copper and negatively with serum ceruloplasmin. Normal-BMI patients exhibited no significant steatosis (R2 = 0. 0065, p = 0.966) by ultrasound-estimated fat fraction (UEFF), while those with BMI > 25 kg/m2 had increased UEFF correlating with BMI (R2 = 0.288, p < 0.015). Over a five-year follow-up using liver elastography, the fibrosis score did not progress significantly in adequately treated patients. Conclusions: Ultrasound with artificial intelligence-derived parameters supports the non-invasive evaluation of hepatic steatosis and fibrosis in WD, complementing clinical and laboratory data. However, population-specific liver stiffness thresholds are still needed.