Wilson disease is an autosomal recessive metabolic disorder in which impaired copper excretion causes copper to accumulate in the body. Early-stage Wilson disease is characterized by the presence of copper deposits in the liver. As the disease progresses, copper accumulates in other organs as well, most importantly in the brain and cornea. The disease often goes undiagnosed until clinical suspicion is raised by the characteristic combination of hepatitis or cirrhosis, dementia, and parkinsonism. Kayser-Fleischer rings (brownish copper deposits visible around the iris) are a further indication of Wilson disease. Diagnostics involve slit lamp examination and laboratory studies to assess copper metabolism (e.g., ceruloplasmin, urinary copper excretion). Genetic testing or liver biopsies with quantitative copper assays may be necessary if the diagnosis is indeterminate. Management consists of maintaining a low-copper diet and administration of a chelating agent (e.g., penicillamine) or zinc salts. Individuals with Wilson disease have a good prognosis if the condition is diagnosed and treated early.
- Age of onset: : 5–35 years ; (mean age 12–23 years) 
- Prevalence: ∼ 1/30,000 
Epidemiological data refers to the US, unless otherwise specified.
- Autosomal recessive mutations in the ATP7B gene (Wilson gene) on chromosome 13, which encodes for a membrane-bound, copper-transporting ATPase → defective ATP7B protein 
- Results in ↑ free serum copper → accumulation in the liver, cornea, CNS (basal ganglia, brain stem, cerebellum), kidneys, and enterocytes 
- Hepatic: variable degrees of liver disease possible
- Kayser-Fleischer rings
- Sunflower cataracts: copper deposits in the lens causing opacification in the shape of a sunflower
- Cerebellar symptoms, e.g.:
- Extrapyramidal symptoms, e.g.:
- Drooling (caused by oropharyngeal dysphagia)
- Cognitive impairment
- Psychiatric and behavioral
- Other: : e.g.,
Wilson disease should be suspected in cases of nonspecific noninfectious liver disease and in nonspecific extrapyramidal movement disorders.
- Consider a diagnosis of Wilson disease in individuals with:
- Perform a comprehensive clinical assessment.
- Obtain routine laboratory studies to evaluate for liver involvement and hemolysis.
- Obtain copper metabolism studies to assess for Wilson disease.
- Consider advanced studies (e.g., liver biopsy, genetic testing) if the diagnosis remains unclear.
Routine screening for Wilson disease in patients with acute liver failure is not recommended. 
Clinical evaluation 
- Obtain a detailed personal and family history.
- Conduct a comprehensive examination, including:
Routine laboratory studies 
- Liver chemistries
- CBC: hemolytic anemia, thrombocytopenia, leukopenia may be present
- BMP: ↑ BUN, ↑ creatinine, ↓ potassium in renal involvement
- Urinalysis: may show microscopic hematuria and/or other findings consistent with (e.g., aminoaciduria)
Copper metabolism studies 
- ↓ Serum ceruloplasmin (< 20 mg/dL)
- ↑ 24-hour urine copper excretion (> ULN)
- Serum copper (optional)
Interpretation of initial testing 
- In patients with one or more clinical features of Wilson disease:
- Scoring systems (e.g., Leipzig score) may help establish the diagnosis.
The absence of typical findings (e.g., Kayser-Fleischer rings) does not exclude the diagnosis.
Advanced studies 
- Liver biopsy: Consider if other tests are inconclusive. ; 
Genetic testing for ATP7B mutation in patients with either:
- First-degree relatives with Wilson disease
- Inconclusive diagnostic tests
- MRI brain
General principles 
- Refer to hepatology for specialist-guided management.
- All patients require lifelong pharmacological therapy.
- Encourage a low-copper diet (e.g., avoidance of organ meats, shellfish, nuts, chocolate, copper-containing dietary supplements).
- Manage hepatic symptoms.
- Consult neurology and/or psychiatry for symptomatic management.
Pharmacological therapy 
- Initial therapy
- Maintenance therapy: : reduced-dose zinc salts or a chelating agent
All patients should be regularly monitored for clinical and laboratory-based improvement and treatment side effects.