Liver-related autoantibodies in Wilson disease: increased prevalence and unclear clinical significance

PURPOSE: Wilson disease (WD) is a rare disorder of copper metabolism, primarily affecting the liver and brain. While the toxic effects of copper are well established, the role of autoantibodies in the disease's pathophysiology remains poorly understood. This study aimed to evaluate the prevalence of liver-related autoantibodies in WD patients and their associations with clinical manifestations. MATERIALS AND METHODS: A total of 112 patients with confirmed WD and 88 healthy volunteers were enrolled. Autoantibodies against liver-related antigens were measured in serum samples taken at diagnosis and during follow-up examinations using standardized Line Blot assays. RESULTS: Liver-related autoantibodies were detected more frequently in WD patients (39.3% at diagnosis and 42.9% at follow-up) than in controls (10.2%; both P ≤ 0.0001 versus controls). In particular, the frequency of antibodies to filamentous actin was significantly higher in WD patients (21.4% at diagnosis and 22.3% at follow-up) compared with healthy controls (2.3%; both P ≤ 0.0001 versus controls). The frequency of autoantibodies remained stable during treatment, regardless of whether D-penicillamine or zinc sulphate was used. There was no significant relationship between the presence of autoantibodies and biochemical markers of liver injury. Autoantibodies were more frequent in female patients, but their presence did not correlate with clinical manifestations or disease severity. CONCLUSIONS: Liver-related autoantibodies were frequently observed in WD and appeared to be markers of immune dysregulation. Further research is needed to clarify the clinical significance of these antibodies and their potential use as biomarkers in the management of WD.