Abstract:
Introduction. Wilson”s disease (WD) biochemical markers
continue to evolve. Classical tests have their own limits
(tab.1), and they are often insufficient to diagnose
or exclude WD. The free copper was proposed as a
diagnostic test, but it was showed a large overlapping of
this parameter between non-WD subjects and WD
patients. New biomarkers are being investigated.
Purpose. The paper aims to analyze the bibliographic
data on the new tools for diagnostic in WD, like
exchangeable copper (CuEXC).
Material and methods. An advanced search was performed
in the PubMed, and ScienceDirect databases, using the
search English terms: ”Wilson's disease”, ”diagnostic test”
and ”relative exchangeable copper”.
Results. CuEXC is a new validated method for the direct
determination of labile copper that can be correlated with
the toxic fraction of copper and used to monitor treatment
in Wilson patients. The relative exchangeable copper (REC) -
the ratio of CuEXC/total serum copper is the best
biomarker for the diagnosis of WD showing 100% sensitivity
and 100% specificity. Studies confirm that a REC value
>18.5% appears to be a highly discriminatory tool to
differentiate WD between controls, presymptomatic
patients, heterozygotes, and patients with non-Wilsonian
liver disease, in cirrhosis and cholestasis, both in adults and
in children. Family screening in asymptomatic subjects
observed that REC determination significantly differentiated
subjects non-WD from WD patients with a cutoff of 15%.
Conclusions. CuEXC proved a helpful contribution in starting quickly the treatment without waiting for genetic testing
results. Being a tool with high sensitivity and specificity, the determination of REC can be useful, reliable, rapid, and
easy to set up to confirm or exclude WD in both adults and children, in carriers or asymptomatic patients.
