Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Review
. 2019 Apr;7(Suppl 2):S70.
doi: 10.21037/atm.2019.03.02.

New tools for Wilson's disease diagnosis: exchangeable copper fraction

France Woimant  1   2 , Nouzha Djebrani-Oussedik  1   3 , Aurélia Poujois  1   2
Affiliations
Review

New tools for Wilson's disease diagnosis: exchangeable copper fraction

France Woimant et al. Ann Transl Med. 2019 Apr.

Abstract

Wilson's disease (WD) biochemical markers continue to evolve. Classical tests [serum copper, serum ceruloplasmin (Cp), urinary copper] have their own limits, and they are often insufficient to diagnose or exclude WD. So, calculated estimation of copper that is not bound to Cp has been proposed, but it is flawed. Therefore, we focused our research on a direct measurement of serum copper labile fraction. Exchangeable copper (CuEXC) offers a correct view of the free copper overload. It provides information on the spread and severity of WD. Relative exchangeable copper (REC) (percentage of exchangeable to total serum copper) that appreciates the toxic fraction of copper in blood is an excellent biomarker for WD diagnosis. These two tests are reliable and non-invasive. They give rapid answers for an appropriate diagnosis and make possible to start the treatment quickly without waiting for the result of the genetic tests. As early diagnosis and treatment are the keystones of successful management of patients with WD, different teams have already applied these tests in a routine framework to a large number of patients.

Keywords: Wilson’s disease (WD); cupric markers; diagnosis; exchangeable copper; relative exchangeable copper (REC).

PubMed Disclaimer

Conflict of interest statement

Conflicts of Interest: The authors have no conflicts of interest to declare.

References

    1. Walshe JM. Cause of death in Wilson disease. Mov Disord 2007;22:2216-20. 10.1002/mds.21693 - DOI - PubMed
    1. Ferenci P, Steindl-Munda P, Vogel W, et al. Diagnostic value of quantitative hepatic copper determination in patients with Wilson’s Disease. Clin Gastroenterol Hepatol 2005;3:811-8. 10.1016/S1542-3565(05)00181-3 - DOI - PubMed
    1. Collet C, Woimant F, Laplanche JL, et al. ADN: études génétiques en vue du diagnostic de maladie de Wilson. EMC - Biologie médicale (Paris) 2019;14:1-6.
    1. Bielli P, Calabrese L. Structure to function relationships in ceruloplasmin: a 'moonlighting' protein. Cell Mol Life Sci 2002;59:1413-27. 10.1007/s00018-002-8519-2 - DOI - PMC - PubMed
    1. Steindl P, Ferenci P, Dienes HP, et al. Wilson's disease in patients presenting with liver disease: a diagnostic challenge. Gastroenterology 1997;113:212-8. 10.1016/S0016-5085(97)70097-0 - DOI - PubMed