Wilson disease

Page most recently updated 7 September 2026

This page focuses on the reported psychiatric associations, which may be the initial presenting manifestation, and on other clinical features that may assist the psychiatrist or primary care physician in identifying the underlying diagnosis, considered through the lenses of the diagnostic lenses framework.

Wilson disease is a genetic neurometabolic disorder of copper metabolism that can affect the nervous system, mental health, the liver, and multiple other organ systems. It occurs as an inherited autosomal recessive genetic condition. A relevant family history may be absent, particularly because affected individuals may present without previously recognized disease in the family.

It can present with psychiatric features such as depression, anxiety, irritability, emotional lability, personality change, behavioural disinhibition, impulsivity, mania or bipolar-spectrum symptoms, and psychosis. Psychiatric manifestations may become apparent or clinically significant during adolescence or adulthood and may precede or accompany the characteristic neurologic or hepatic manifestations.

Other characteristic features include tremor, dystonia, chorea or choreoathetosis, parkinsonism, dysarthria, impaired coordination, gait disturbance, rigidity, dysautonomia, seizures, and cognitive difficulties. Kayser–Fleischer rings, caused by corneal copper deposition, are a characteristic ocular finding, particularly in individuals with neurologic or psychiatric presentations. Hepatic manifestations may range from asymptomatic biochemical abnormalities to acute hepatitis, chronic liver disease, cirrhosis, and acute liver failure.

From a multisystemic lens perspective, clinical features in other body systems include (but are not limited to):

  • Cardiovascular: cardiomyopathy and cardiac arrhythmias may occur.

  • Renal/electrolytes: renal tubular dysfunction, aminoaciduria, hematuria, and nephrolithiasis may occur.

  • Hepatobiliary: hepatic steatosis, hepatitis, chronic liver disease, cirrhosis, portal hypertension, and acute liver failure may occur; recurrent hemolysis may contribute to cholelithiasis.

  • Hematologic: Coombs-negative hemolytic anemia may occur, particularly during acute hepatic presentations.

  • Musculoskeletal: premature osteoporosis, reduced bone mineral density, arthritis, and other skeletal or joint abnormalities may occur.

Early diagnosis is important because a psychiatric presentation can be the first major clue to an otherwise unsuspected, highly treatable metabolic disorder. It is also important to prevent progressive and potentially irreversible copper accumulation, recognize and treat acute liver failure and other serious hepatic complications, reduce the risk of permanent neurologic disability, guide appropriate chelation or zinc therapy and psychiatric treatment, and enable genetic counselling and screening of at-risk relatives.

Selected references and further reading — Multisystemic lens

Cardinal RN, Bullmore ET. The diagnosis of psychosis. Cambridge: Cambridge University Press; 2011.

Sachdev PS, Keshavan MS, editors. Secondary schizophrenia. Cambridge: Cambridge University Press; 2010.

Levenson JL, editor. The American Psychiatric Association Publishing textbook of psychosomatic medicine and consultation-liaison psychiatry. 3rd ed. Washington (DC): American Psychiatric Association Publishing; 2019.

Stern TA, Beach SR, Smith FA, Freudenreich O, Vranceau AM, Fava M, editors. Massachusetts General Hospital handbook of general hospital psychiatry. 8th ed. Philadelphia: Elsevier; 2025.

Arciniegas DB, Yudofsky SC, Hales RE, editors. The American Psychiatric Association Publishing textbook of neuropsychiatry and clinical neurosciences. 6th ed. Washington (DC): American Psychiatric Association Publishing; 2018.

Agrawal N, Faruqui R, Bodani M, editors. Oxford textbook of neuropsychiatry. Oxford: Oxford University Press; 2020.

Boland R, Verduin M, editors. Kaplan and Sadock's comprehensive textbook of psychiatry. 11th ed. Philadelphia: Wolters Kluwer; 2024.

Loscalzo J, Fauci AS, Kasper DL, Hauser SL, Longo DL, Jameson JL, editors. Harrison's principles of internal medicine. 22nd ed. New York: McGraw Hill; 2025.