Wilson’s disease

Wilson’s Disease


Wilson's disease is a genetic condition that causes excessive accumulation of copper in the liver, brain and other organs. It is one of the common causes of liver disease in children in India. Early diagnosis is key to treating and managing Wilson’s disease.

Signs and symptoms

Wilson’s disease causes liver-related symptoms such as fatigue, nausea, jaundice, loss of appetite, abdominal bloating and pain, muscle cramps and spider angiomas. In addition to the liver-related symptoms, some patients with involvement of the brain may also experience memory, speech or vision impairment, migraines, disorientation, changes in personality and mood, muscle spasms and seizures. Patients may develop sunflower cataracts (copper deposits) in the eyes. Occasionally, Wilson’s disease may present with sudden onset of liver failure and may be rapidly lethal if untreated.

Causes and risk factors

Wilson’s disease is caused by a mutation in the ATP7B gene, which carries instructions on the transportation of copper around the body. If both the parents are carriers of the gene mutation, the child has a 50% chance of being a carrier and 25% chance of acquiring Wilson’s disease.


Left undiagnosed and untreated, Wilson’s disease can cause fatal complications including cirrhosis, acute liver failure, neurological issues like tremors and speech difficulty, psychological trauma and haemolysis leading to anaemia.


The disease should be suspected in children and adolescents with symptoms of chronic liver disease. Diagnosis is confirmed based on a physical exam, patient and family medical history, blood tests, urine tests and a series of imaging tests to look for brain and liver abnormalities. A liver biopsy may also be required. Once diagnosed, the doctor may recommend that the family also undergo screening to understand their risk of passing on Wilson’s disease to their children.

Treatment and Surgical Interventions

The treatment for Wilson’s disease is done in 3 stages. First, the copper deposits in the body are expelled by administering chelating drugs, which remove excess copper from the body. The second stage of treatment focuses on preventing further copper absorption. This is done by prescribing oral zinc tablets. In the last stage of treatment, once symptoms have improved, and zinc levels are normal, the patient will require regular monitoring of copper levels and periodic chelating therapy. The treatment becomes less effective with the age of the patient. Patients with severe liver disease who deteriorate on medical treatment or who do not tolerate the medications may need liver transplantation as a definitive curative treatment.


Wilson’s disease cannot be prevented. Still, with early genetic screening, the symptoms can be prevented and managed more easily.

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