Wilson disease is a rare genetic condition in which excess copper accumulates throughout the body, especially in the liver and brain. Caused by mutations in the ATP7B gene, Wilson disease may result in substantial organ damage, severe disability, and even death if it is not detected early and treated effectively. Thus, early diagnosis and treatment are crucial.1 Wilson disease is a progressive condition without a specific treatment. An interprofessional team is best suited to address the disorder, comprising the following specialists: gastroenterologist (specifically, a hepatologist), neurologist, geneticist, mental health nurse, dietitian, nurse practitioner, pathologist, radiologist, and internist. Collectively, these clinicians provide comprehensive and well-coordinated care to patients with Wilson disease.2,3

Role of Gastroenterologist and Hepatologist 

Because Wilson disease affects the liver, physicians who specialize in the prevention, diagnosis, and treatment of diseases of the gastrointestinal tract and liver play an essential role.4 A gastroenterologist or hepatologist evaluates the symptoms of liver disease that frequently occur in individuals with Wilson disease, such as jaundice (yellow discoloration of the skin and sclerae), lunulae ceruleae (bluish discoloration at the base of fingernails), primary biliary cirrhosis, leg edema, ascites (due to abnormal fluid retention), excessive fatigue, esophageal varices (enlarged veins that can bleed into the lumen), easy bruising, and prolonged bleeding. Some people with Wilson disease may have abnormal liver function test results yet have no symptoms for several years. Liver failure occurs in only a small percentage of affected individuals.2,5 

Role of Neurologist

The neurological symptoms of Wilson disease are challenging to treat.2 The neurological symptoms are predominantly extrapyramidal (ie, dystonia, tremors, dysphasia, dysarthria, and ataxia). Accumulated copper in the brain is usually the primary cause of neurological symptoms and is sufficient to destroy nerve cells.6 

Role of Ophthalmologist

The ocular signs of Wilson disease are diagnosed, treated, and closely monitored by an ophthalmologist, who can identify Kayser-Fleischer rings in the eyes of people with Wilson disease. An eye exam and slit-lamp examination for Kayser-Fleischer (KF) rings on the cornea may reveal icterus of sclerae.2 

Enhancing Healthcare Outcomes Through a Team Approach

In addition to clinicians, the inclusion of nurses and pharmacists in the care team immensely improves disease outcomes. The pharmacist should make sure the patient is not taking any medications that can impair the liver. Chelation therapy must be closely monitored by the pharmacist because it can have a number of unfavorable effects that exacerbate symptoms. Some patients must occasionally stop chelation therapy. The neuropsychiatric symptoms should be evaluated periodically by a mental health nurse because treatment with additional medications may be required. Although a liver transplant is a curative procedure, transplant recipients must be monitored carefully for any negative consequences of their immunosuppressant medications.2

A dietitian or nutritionist is also required for the management of patients with Wilson disease. Patients should be advised to maintain a diet low in foods containing copper and avoid mushrooms, chocolate, nuts, dried fruit, liver, and shellfish. Alcohol consumption is prohibited. Patients should also avoid all hepatotoxic medications.2

In addition to neurologists, physiotherapists and occupational therapists play a role in the management of patients with neurological forms of Wilson disease. It can take up to 6 months before the beneficial effects of copper-chelating medications become apparent. In the meantime, physiotherapy and occupational therapy can be prescribed to manage ataxia, dystonia, and tremors and to prevent contractures due to dystonias.2 

A genetics nurse or a clinician geneticist is also required to provide genetic counseling regarding transmission of the mutant gene.​ So that these patients receive the best care possible, ophthalmology, gastrointestinal, neurology, and psychiatry services should all be consulted. A collaborative effort is the only way in which the morbidity and mortality of Wilson disease be decreased.2


  1. Gateway clinical trial. Accessed September 22, 2022. 
  2. Chaudhry HS, Anilkumar AC. Wilson disease. StatPearls [Internet]. Updated May 8, 2022. Accessed September 22, 2022.
  3. Wilson’s disease care at Mayo Clinic. Mayo Clinic. Accessed September 22, 2022. 
  4. Gastroenterology and hepatology. Mayo Clinic. Accessed September 22, 2022.
  5. Wilson disease. NORD – National Organization for Rare Disorders. Accessed September 22, 2022. 
  6. Kumar MK, Kumar V, Singh PK. Wilson’s disease with neurological presentation, without hepatic involvement in two siblings. J Clin Diagn Res. 2013;7(7):1476-1478. doi:10.7860/JCDR/2013/5974.3188

Reviewed by Debjyoti Talukdar, MD, on 9/28/2022.