A new study published in Diagnostics revealed that patients with Wilson’s disease (WD) have a higher prevalence of celiac-specific autoantibodies compared to the general population.

The study found that the prevalence of tissue autoantibodies in children with WD appears to be more significant than in the general population, the study authors noted. Moreover, the autoimmune disruptions in WD may not be directly related to liver damage as indicated by steatosis and/or liver stiffness investigated using transient elastography (TE), they continued.

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Wilson’s disease is a rare genetic disorder that results in the toxic accumulation of copper in the liver and nervous system due to mutations in the ATP7B gene. The disease mainly manifests in liver injury, ranging from asymptomatic to advanced fibrosis, cirrhosis, and acute liver failure, with liver dysfunction, potentially appearing as early as one year of age but rarely symptomatic before age five.

Prior studies have reported that autoimmune disorders have become more prevalent recently and might affect up to 5% of the population. These antibodies are commonly present in autoimmune hepatitis, but they can also be found in other liver diseases and healthy individuals. In some cases, these antibodies may be associated with a more severe course of the disease, the researchers noted. Low-titer autoimmune antibodies have been observed in individuals with WD. Still, the significance of their presence in relation to liver function and the presence of steatosis or fibrosis is unknown, they added.

The study assessed 74 children with a mean age of 11.6 years WD. Females accounted for 41 members of the cohort. The disease diagnosis was based on the scoring system that considered copper metabolism parameters and/or molecular examination for ATP7B gene mutations.

The patients were treated with either zinc or d-penicillamine, and all underwent TE. Multiple antibodies of class immunoglobulin G were analyzed, including antinuclear antibodies (ANA), antimitochondrial antibodies, antismooth muscle antibodies (SMA), antiliver/kidney microsomal antibodies type 1 (LKM-1), anti-parietal cell antibodies (APCA), and antineutrophil cytoplasmic antibodies.

Study results revealed that patients with WD were presented with slightly increased liver enzymes, abnormal ceruloplasmin, and 24-hour copper excretion at diagnosis. Moreover, the median liver stiffness was normal; 11% of patients had advanced fibrosis. In addition, the presence of autoantibodies was demonstrated in 84% of patients with WD, with a significantly higher prevalence compared to the control group. Furthermore, ANA antibodies occurred with a higher prevalence in WD than in healthy controls, suggesting positive autoantibodies are more common in children and adolescents with WD than in the healthy population.

Although WD children showed a more frequent presence of SMA and APCA antibodies than the control group, the positivity differences were not statistically significant. Additionally, results showed no correlation of liver stiffness with liver function tests, copper metabolism markers, or the main class immunoglobulins. Particularly, the presence of specific autoantibodies was not related to liver steatosis or stiffness after undergoing TE. These findings suggest that autoantibody testing may be useful in diagnosing WD and monitoring disease progression in children and adolescents with WD.

“In our opinion, the high prevalence of autoantibodies seen in our patients with WD did not indicate an autoimmune disease. We consider this finding a phenomenon that should rather be treated as a benign condition,” the authors highlighted.


Jańczyk W, Bierła JB, et al. Prevalence and significance of autoantibody seropositivity in children with Wilson’s disease. Diagnostics 2023. Published online February 17, 2023. doi: 10.3390/diagnostics13040768