Researchers from China developed a new nomogram that could predict the risk of Wilson disease before the detection of serum ceruloplasmin or urinary copper levels. The new nomogram greatly increases screening efficiency for patients with abnormal liver function.

There is currently no model that can predict Wilson disease. To improve the accuracy of the diagnosis of Wilson disease, a team led by Yongyu Mei from the Department of Infectious Diseases, The Third Affiliated Hospital of Sun Yat-sen University in Guangzhou, China used the daily clinical parameters of patients with abnormal liver function.

Read more about the diagnosis of Wilson disease

The researchers identified 90 patients with Wilson disease and 128 patients who did not have Wilson disease. All patients with Wilson disease had a mutation in the ATP7B gene. 

The nomogram was based on 6 predictive factors. These were the reticulocyte percentage and the levels of serum copper, direct bilirubin, uric acid, cholinesterase, and prealbumin.

The researchers reported that the area under the curve reached 0.967 in the training cohort and 0.991 in the validation cohort.

“Based on the optimal cutpoint of 213.55, our nomogram performed well, with a sensitivity of 96% and a specificity of 87%,” they wrote in an article published in Liver Research.

Wilson disease is a rare genetic disease affecting copper metabolism. It is caused by a mutation in the ATP7B gene, which codes for the ATPase 2 enzyme that is responsible for the transport of copper from the liver to other parts of the body. When the enzyme does not function properly due to the mutation, copper accumulates in the liver, brain, and eyes, causing liver disease, neurological and psychiatric problems, and Kayser-Fleischer rings, respectively. 

Diagnostic workup of the disease consists of a physical exam, family history, laboratory tests, imaging, histopathological assessment, and genetic tests.

Reference

Pang J, Chen S, Gan W, et al. A novel nomogram based on routine clinical indicators for screening for Wilson’s disease. Liver Res. Published online February 24, 2023. doi:10.1016/j.livres.2023.02.003