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
. 2018 Feb 28:8:525.
doi: 10.7916/D841881D. eCollection 2018.

Advances in Treatment of Wilson Disease

Annu Aggarwal  1 , Mohit Bhatt  1
Affiliations
Review

Advances in Treatment of Wilson Disease

Annu Aggarwal et al. Tremor Other Hyperkinet Mov (N Y). .

Abstract

Background: Wilson disease (WD) is an inherited neurometabolic disorder that results in excessive copper deposition in the liver and the brain, affecting children and young adults. Without treatment the disease is invariably fatal. Though treatments for WD have been available since the 1950s, the disease continues to be associated with considerable morbidity and mortality because of missed diagnosis, and delayed or inadequate treatment. In this paper we survey WD-related literature in order to review recent advances in WD treatment.

Methods: We performed a literature search using the PubMed database for articles relating to WD and its medical treatment. We reviewed the articles, and cross-references of relevant articles, to summarize the current practices for treatment of WD.

Results: The survey shows that if WD is properly treated, in most patients the liver can be stabilized, even severe neurological disability reversed, and patients can resume normal lives.

Discussion: Medical treatment for WD includes use of copper chelators (penicillamine, trientine, dimercaprol, dimercaptopropane sulfonate, and ammonium tetrathiomolybdate) and drugs that decrease gastrointestinal copper absorption. Our knowledge of the treatment approaches has benefited from the large systematic clinical studies that have been conducted over the last decade. For each drug used to treat WD, we surveyed its development, indication for use, dosing, efficacy, and adverse effects.

Keywords: Wilson disease; dimercaprol; penicillamine; tetrathiomolybdate; trientine; zinc.

PubMed Disclaimer

Conflict of interest statement

Funding: None. Conflict of Interests: The authors report no conflict of interest. Ethics Statement: Not applicable for this category of article.

Similar articles

See all similar articles

Cited by

See all "Cited by" articles

References

    1. Wilson SAK. Progressive lenticular degeneration—a familial nervous disease associated with cirrhosis of the liver. Brain. 1912;34:295–509. doi: 10.1093/brain/34.4.295. - DOI - PubMed
    1. Cumings JN. The copper and iron content of brain and liver in the normal and in hepato-lenticular degeneration. Brain. 1948;71:410–5. doi: 10.1093/brain/71.4.410. - DOI - PubMed
    1. Denny-Brown D, Porter H. The effect of BAL (2,3-dimercaptopropanol) on hepatolenticular degeneration (Wilson’s disease) N Engl J Med. 1951;245:917–25. doi: 10.1056/NEJM195112132452401. - DOI - PubMed
    1. Cumings JN. The effects of B.A.L. in hepatolenticular degeneration. Brain. 1951;74:10–22. doi: 10.1093/brain/74.1.10. - DOI - PubMed
    1. Denny-Brown D, Porter H. The effect of BAL (2,3-dimercaptopropanol) on hepatolenticular degeneration (Wilson’s disease) Trans Am Neurolog Assoc. 1951;56:79–84. - PubMed

MeSH terms

LinkOut - more resources