Wilson disease

Common Name(s)

Wilson disease

Wilson disease is a genetic condition that causes a buildup of copper in the body and leads to liver, eye, and brain issues. Symptoms of Wilson disease can present anywhere between the ages of 6 to 45 years old. When Wilson disease presents in children and teenagers, liver disease is typically the first feature. Symptoms of liver disease in individuals with Wilson disease include yellowing of the skin and whites of the eyes (jaundice), decreased appetite, swelling of the lower stomach (abdomen), and feeling tired (fatigue). If Wilson disease presents in an adult, nervous system or psychiatric issues are usually the first features. Symptoms include being clumsy, shaking (tremors), and problems with speech, thinking, and walking. Wilson disease also causes a copper build up in the front of the eye (retina) called a Kayser-Fleischer ring.

Wilson disease is caused by changes (mutations) in the ATP7B gene and is inherited in an autosomal recessive manner, which means a person must have a mutation in both copies of their ATP7B gene in order to have the condition. The ATP7B gene provides the instructions for the body to make a copper transporter in the liver. When both copies of this gene are mutated, the body cannot make enough of the copper transporter, which causes the buildup of copper. There are many ways to diagnose Wilson disease, including a physical examination, blood or urine tests to measure copper levels, and imaging tests (MRI and CT scan). In some cases, the doctor may collect and examine a small piece of the liver (biopsy). Genetic testing is used to confirm the diagnosis. The goal of treatment for Wilson disease is to lower copper levels in the body. There are medications and changes to diet to help decrease a person’s copper level. In some cases, a liver transplant may be needed. If your child has been diagnosed with Wilson disease, talk with their doctor about the most current treatment options.

Source: Advocacy organizations associated with the condition.

 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Wilson disease" for support, advocacy or research.

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Pediatric Brain Foundation

Pediatric Brain Foundation's Mission is Three-fold: 1. Expedite scientific research to find treatments and cures for ALL of the more than 14 million children, in the U.S. alone, living with some form of neurological disorder 2. Provide families and health care professionals with up-to-date information and resources on the latest discoveries in pediatric neurology 3. Educate the public and public officials on the critical importance of funding pediatric neurological research

Last Updated: 22 Apr 2015

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Wilson Disease Association

The Wilson Disease Association funds research and facilitates and promotes the identification, education, treatment, and support of patients and other individuals affected by Wilson disease.

Last Updated: 10 Jan 2013

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Wilson disease" for support, advocacy or research.

Logo
Pediatric Brain Foundation

Pediatric Brain Foundation's Mission is Three-fold: 1. Expedite scientific research to find treatments and cures for ALL of the more than 14 million children, in the U.S. alone, living with some form of neurological disorder 2. Provide families and health care professionals with up-to-date information and resources on the latest discoveries in pediatric neurology 3. Educate the public and public officials on the critical importance of funding pediatric neurological research

http://www.pediatricbrainfoundation.org

Last Updated: 22 Apr 2015

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Wilson Disease Association

The Wilson Disease Association funds research and facilitates and promotes the identification, education, treatment, and support of patients and other individuals affected by Wilson disease.

http://www.wilsonsdisease.org

Last Updated: 10 Jan 2013

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Wilson disease" returned 174 free, full-text research articles on human participants. First 3 results:

Familial screening of children with Wilson disease: Necessity of screening in previous generation and screening methods.
 

Author(s): Huamei Li, Lifang Liu, Yun Li, Shendi He, Yujie Liu, Jinhong Li, Ran Tao, Wei Li, Shiqiang Shang

Journal: Medicine (Baltimore). 2018 Jul;97(27):e11405.

 

Wilson disease (WD) is an autosomal recessive genetic disorder associated with copper metabolism. Early diagnosis and therapy can result in good prognosis of WD. Thus, it is highly recommended to perform familial screening. In this study, we aimed to investigate the range of familial ...

Last Updated: 31 Dec 1969

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Characteristics of a newly diagnosed Polish cohort of patients with neurological manifestations of Wilson disease evaluated with the Unified Wilson's Disease Rating Scale.
 

Author(s): Anna Członkowska, Tomasz Litwin, Karolina Dzieżyc, Michal Karliński, Johan Bring, Carl Bjartmar

Journal:

 

Wilson disease is a rare genetic disorder in which impaired copper excretion results in toxic copper levels and tissue damage. Manifestations are primarily hepatic and/or neuropsychiatric, with a variety of neurological phenotypes. The aim of this study was to characterize neurological ...

Last Updated: 31 Dec 1969

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Novel compound heterozygote mutations in the ATP7B gene in an Iranian family with Wilson disease: a case report.
 

Author(s): Omid Daneshjoo, Masoud Garshasbi

Journal:

 

Wilson disease is an autosomal recessive disorder of copper transport and is characterized by excessive accumulation of cellular copper in the liver and other tissues because of impaired biliary copper excretion and disturbed incorporation of copper into ceruloplasmin. Hepatic failure ...

Last Updated: 31 Dec 1969

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Wilson disease" returned 7 free, full-text review articles on human participants. First 3 results:

The genetics of Wilson disease.
 

Author(s): Irene J Chang, Si Houn Hahn

Journal: Handb Clin Neurol. 2017 ;142():19-34.

 

Wilson disease (WD) is an autosomal-recessive disorder of hepatocellular copper deposition caused by pathogenic variants in the copper-transporting gene, ATP7B. Early detection and treatment are critical to prevent lifelong neuropsychiatric, hepatic, and systemic disabilities. Due ...

Last Updated: 31 Dec 1969

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Four-year follow-up of a Wilson disease pedigree complicated with epilepsy and hypopituitarism: Case report with a literature review.
 

Author(s): Qi-Jie Zhang, Liu-Qing Xu, Chong Wang, Wei Hu, Ning Wang, Wan-Jin Chen

Journal: Medicine (Baltimore). 2016 Dec;95(49):e5331.

 

Wilson's disease (WD) is an autosomal recessive inherited disorder of copper metabolism with excellent prognosis if treated timely. However, WD is usually prone to neglect and misdiagnosis at an early stage. We reported a rare WD pedigree, and the clinical features, laboratory tests, ...

Last Updated: 31 Dec 1969

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Trientine induced colitis during therapy for Wilson disease: a case report and review of the literature.
 

Author(s): Salih Boga, Dhanpat Jain, Michael L Schilsky

Journal:

 

Wilson disease (WD) is an autosomal recessive disorder of human copper metabolism characterized by copper accumulation in the liver due to impaired excretion of copper into the bile. Brain accumulation of copper may cause neuropsychiatric symptoms. Trientine (triethylenetetramine ...

Last Updated: 31 Dec 1969

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Natural History of Wilson Disease
 

Status: Recruiting

Condition Summary: Wilson Disease

 

Last Updated: 8 Jan 2018

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Last Updated: 3 Sep 2018

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A Retrospective Study to Assess the Clinical Efficacy and Safety of Trientine in Wilson's Disease Patients
 

Status: Recruiting

Condition Summary: Trientine Treatment for Wilson's Disease

 

Last Updated: 22 Mar 2018

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