image: ESTABLISHMENT OF A NOMOGRAM BASED ON SIX CLINICAL INDICATORS FOR WILSON'S DISEASE view more
Credit: THE AUTHORS
Wilson's disease is a rare autosomal recessive disorder characterized by abnormal copper deposition in the liver, brain, cornea, and other tissues. It can lead to severe symptoms such as hepatitis, cirrhosis, and liver failure or neurological manifestations such as tremor and dysarthria.
In China, however, this disorder is much more common due to lack of screenings for early diagnosis; tests like serum ceruloplasmin, 24-hour urinary copper excretion, Kayser-Fleischer rings, hepatic copper content and gene sequencing are not frequently conducted.
In a study published in the KeAi journal Liver Research, a research team based in China developed a simple nomogram based on easily accessible and automatable detected routine clinical indicators to reduce missed diagnosis and misdiagnosis of Wilson's disease.
The study included 90 Wilson's disease patients with abnormal liver function and 128 patients with similar liver function but without Wilson's disease. Twelve candidate indicators were selected from the routine clinical indicators in the training cohort based on a selection operator regression analysis and the least absolute shrinkage. The indicators were then entered into a multivariate logistic regression model.
“We identified six independent predictors of Wilson's disease: serum copper, direct bilirubin, uric acid, cholinesterase, prealbumin, and reticulocyte percentage,” shared Jiahui Pang, lead author of the study. “Based on these routine clinical indicators, we constructed a novel nomogram for Wilson's disease.”
Xinhua Li, co-corresponding author further explained, “The training cohort's nomogram revealed a strong area under the receiver operating characteristic curve of 0.967 (95% confidence interval (CI) 0.946–0.988), demonstrating excellent recognition. The optimal cut-off point for the nomogram was 213.55, with 96% sensitivity and 87% specificity.”
Validation of the model in the cohort produced an even more impressive area under the receiver operator characteristic curve of 0.991 (95% CI 0.970–1.000). Decision and clinical impact analyses were then carried out on the model to underscore its high clinical value.
“We constructed an accurate nomogram for Wilson's disease and found it had an excellent diagnostic efficacy,” added co-corresponding Yongyu Mei. “A notable advantage of this nomogram is that the six routine blood indicators used in its construction can be obtained easily through noninvasive methods.”
Indeed, this novel model enables earlier detection of Wilson's disease compared to serum ceruloplasmin and 24-hour urinary copper tests. It will no doubt pave the way for clinicians in making targeted decisions and increasing the diagnosis rate of Wilson's disease.
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Contact the corresponding author: Xinhua Li, Department of Infectious Diseases, The Third Affiliated Hospital of Sun Yat-sen University, Guangzhou, Guangdong, China, lixinh8@mail.sysu.edu.cn
The publisher KeAi was established by Elsevier and China Science Publishing & Media Ltd to unfold quality research globally. In 2013, our focus shifted to open access publishing. We now proudly publish more than 100 world-class, open access, English language journals, spanning all scientific disciplines. Many of these are titles we publish in partnership with prestigious societies and academic institutions, such as the National Natural Science Foundation of China (NSFC).
Journal
Liver Research
Method of Research
Randomized controlled/clinical trial
Subject of Research
People
Article Title
A novel nomogram based on routine clinical indicators for screening for Wilson's disease
COI Statement
The authors declare that they have no conflict of interest.