About Wilson Disease
Wilson disease is caused by changes (mutations) in both copies of a gene called ATP7B, located on chromosome 13. ATP7B contains the instructions for a protein that lives inside liver cells (hepatocytes) and acts like a copper exporter. Normally, this protein loads copper onto ceruloplasmin (a copper-carrying protein in the blood) and pushes excess copper out of the liver into bile, where it leaves the body in stool. When ATP7B is broken, the body cannot get rid of copper through this route. Copper builds up first in the liver, then spills into the bloodstream and deposits in the brain, the eyes, the kidneys, and other organs. Free copper (copper not bound to ceruloplasmin) is chemically reactive and damages the tissues it accumulates in.
The disease can show up in very different ways from one patient to the next. The liver pattern can range from mildly elevated liver enzymes (transaminases) with no symptoms, through chronic liver inflammation (hepatitis), to scarring of the liver (cirrhosis) that may or may not still be functioning. In roughly 5% of patients the first sign is sudden, severe liver failure (acute liver failure), with breakdown of red blood cells (hemolysis) and impaired blood clotting (coagulopathy), which often requires an emergency liver transplant. The neurologic pattern can include tremor, abnormal muscle contractions (dystonia), Parkinson-like slowness and stiffness, slurred speech (dysarthria), difficulty swallowing (dysphagia), and balance and walking problems. Brain MRI in these patients often shows characteristic changes in the deep brain structures that control movement (the basal ganglia), including a finding called the face-of-the-giant-panda sign. The psychiatric pattern can include depression, personality changes, impulsivity, and in some patients psychosis, and is sometimes the first thing a family or doctor notices.
Diagnosis combines clinical clues with lab tests and genetic confirmation. Suggestive findings include low blood levels of ceruloplasmin, high copper levels in a 24-hour urine collection, the presence of Kayser-Fleischer rings on a slit-lamp eye exam, high copper measured directly in a small piece of liver (liver biopsy), and identifying mutations in both copies of ATP7B on genetic testing. The Leipzig diagnostic score combines these findings into a validated scoring framework that doctors use to confirm or rule out Wilson disease. The American Association for the Study of Liver Diseases (AASLD) 2023 Practice Guidance is the current standard reference for diagnosis and management.
Untreated Wilson disease is fatal. With early diagnosis and lifelong treatment, life expectancy and quality of life can approach normal. Patients found before symptoms start (most often through screening of family members) and started on treatment quickly have the best outcomes. Patients who already have neurologic symptoms may have lasting effects even after copper levels are well controlled, which is why screening at-risk relatives matters so much. Wilson disease is the clinical mirror image of Menkes disease. Both diseases are caused by broken copper transporters, but Wilson (the ATP7B transporter) causes copper to build up to toxic levels, while Menkes (the ATP7A transporter) causes copper deficiency in the brain and connective tissue.
Common Symptoms of Wilson Disease
Recognizing the signs of Wilson Disease early can lead to faster diagnosis and better outcomes. Symptoms may vary in severity from person to person. If you or a loved one are experiencing any of the following, consider speaking with a specialist.
- Kayser-Fleischer rings (greenish-brown copper deposits in the cornea, visible on slit-lamp examination)
- Liver disease ranging from elevated liver enzymes and steatosis to cirrhosis or acute (fulminant) liver failure
- Tremor, dystonia, parkinsonism, and other involuntary movement disorders
- Dysarthria (slurred speech) and dysphagia (difficulty swallowing)
- Psychiatric symptoms including depression, personality change, impulsivity, and psychosis
- Cognitive decline and difficulty with executive function and attention
- Coombs-negative hemolytic anemia, particularly during acute hepatic episodes
- Renal tubular dysfunction with aminoaciduria, glucosuria, and reduced phosphate reabsorption
- Osteopenia, osteomalacia, and increased fracture risk
- Coagulopathy in acute liver failure presentations
Who Wilson Disease Affects
Wilson disease is autosomal recessive, meaning a person must inherit two altered copies of the ATP7B gene (one from each parent) to develop the disease. Both sexes are affected equally, and the disease has been described in every population studied. Carriers of a single ATP7B variant are typically asymptomatic.
Most patients first develop symptoms between ages 5 and 35, though presentations have been described from age 3 through the seventh decade. The hepatic phenotype tends to dominate in children and adolescents, while neurologic and psychiatric phenotypes are more common in patients diagnosed in their 20s and 30s. Asymptomatic siblings of an affected patient should be screened biochemically and genetically, since starting treatment before symptoms develop offers the best outcomes.
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FDA-Approved Treatments for Wilson Disease
There are currently 4 FDA-approved medications for Wilson Disease. These therapies represent the current standard of care and may be used alongside or compared against investigational treatments in active clinical trials.
Source: openFDA drug labeling data. This list may not include all treatments. Always consult your doctor.
Help Paying for Wilson Disease Treatment
Charity funds and drugmaker programs for Wilson Disease, checked at the source. Pick your insurance to see what fits.
- From a charity · Wilson Disease AssociationWDA Patient Assistance fundApply directly
Pays for: Travel and lodging (up to 7 days) for testing or treatment, for the patient and one companion, up to $2,000 per year.
The foundation says: “Status not shown on page”
- Cuvrior (Trientine tetrahydrochloride) · Navigator Program (Orphalan)
- Syprine (Trientine hydrochloride) · Bausch Health Patient Assistance Program
- Cuprimine (Penicillamine) · Bausch Health Patient Assistance Program
- Galzin (Zinc acetate) · Eton Cares Program
Side Effect Explorer
Real-world side effect reports from the FDA Adverse Event Reporting System (FAERS). Includes both FDA-approved drugs and investigational therapies from active clinical trials. Click any drug to see what patients reported.
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Genetic Testing
Genetic testing can confirm a diagnosis, guide treatment decisions, and identify family members who may be at risk.
The ATP7B gene page lists every condition Orphanet links to the gene and the open trials that name it.
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Trusted Wilson Disease Resources
Reputable organizations and medical references for learning more about Wilson Disease, including disease registries, foundation resources, and clinical guidelines.
