Latest for Wilson Disease
See all trialsThe week in rare diseaseEach date is the day a change was posted. Open an item to see where things stand now.
- Trial statusNo longer enrolling. Early Check: Expanded Screening in Newborns (RTI International)ClinicalTrials.gov
More about Wilson Disease
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.
Keep reading about Wilson Disease
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 about 3-5% 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 needs an emergency liver transplant; without one, this form is almost always fatal. A transplant is also the option when medicines fail.
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 changes in the deep brain structures that control movement (the basal ganglia); in advanced neurologic disease it can show a pattern in the midbrain 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) 2022 Practice Guidance and the European EASL-ERN guidelines from 2025 are the main references for diagnosis and management.
Doctors track treatment with 24-hour urine copper, serum copper and ceruloplasmin (used to estimate the copper not bound to ceruloplasmin), blood counts, urine tests and liver tests, usually at least twice a year.
Untreated Wilson disease is fatal. With early diagnosis and lifelong treatment, life expectancy and quality of life can approach normal, but skipping or stopping medicine can trigger liver failure. Treatment continues through pregnancy, usually at a lower chelator dose, and people on penicillamine are advised to keep dietary copper low, avoiding foods such as liver, shellfish, nuts, chocolate and mushrooms.
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.
What are the symptoms of Wilson Disease?
These are common symptoms of Wilson Disease, and how strong they are varies from person to person.
- 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 gets Wilson Disease?
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 4 and 40, though it has been diagnosed from age 3 into the 70s (AASLD). 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.
Next steps: find trials you might fitcompare treatmentsget help payingget alerts
Which medicines are FDA-approved for Wilson Disease?
There are currently 4 FDA-approved medications for Wilson Disease.
Source: openFDA drug labeling data. This list may not include all treatments. Always consult your doctor.
Which new Wilson Disease medicines are in trials?
Investigational medicines Trial Friend tracks for Wilson Disease, with trial results, safety findings and where each one stands.
How to get help paying for Wilson Disease treatment
Charity funds and drugmaker programs for Wilson Disease, checked at the source.
- 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 effects people have reported to the FDA
Side effects people have reported to the FDA
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.
Loading side effect data...
Diagnosis and genetic testing
Genetic testing for Wilson Disease
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.
Finding labs...
Trusted Wilson Disease resources
Reputable organizations and medical references for learning more about Wilson Disease, including disease registries, foundation resources, and clinical guidelines.
- Wilson Disease Association
- Wilson disease, a summary of the updated AASLD Practice Guidance (Hepatology Communications, 2023)
- EASL-ERN Clinical Practice Guidelines on Wilson disease, 2025 (PubMed)
- GeneReviews - Wilson Disease
- MedlinePlus Genetics - Wilson Disease
- NIH GARD - Wilson Disease
- NORD - Wilson Disease