Wilson’s disease: causes, symptoms, diagnosis, treatment and prevention Health

Wilson’s disease is a rare genetic disorder that causes copper to accumulate in various organs, including the liver, brain and eyes, and excess copper can cause significant damage to these organs, causing a range of symptoms. According to health experts, apart from alcohol, hepatitis B and hepatitis C viruses, Wilson’s disease is the main cause of cirrhosis of the liver, but most of the time these diseases are silent and the disease is usually pre-existing after symptoms appear.

Wilson's disease: causes, symptoms, diagnosis, treatment and prevention (photo by Twitter/theliverdr)
Wilson’s disease: causes, symptoms, diagnosis, treatment and prevention (photo by Twitter/theliverdr)

It is a hereditary disease, meaning it runs in families and is a rare genetic disorder that affects the body’s ability to remove excess copper from vital organs such as the liver, brain and eyes. This disease, also known as hepatolenticular degeneration, can lead to serious neurological and liver problems if left untreated.


In an interview with HT Lifestyle, Dr Purushottam Vasishtha, Consultant – Gastroenterology at Apollo Hospitals, Navi Mumbai shared, “Wilson’s disease is caused by a genetic mutation that affects the body’s ability to metabolize copper. Normally, the liver removes excess copper from the body and releases it into the bile for excretion. In people with Wilson’s disease, this process is disrupted, leading to an accumulation of copper in the body.”

Dr. Sanjeev Rohatgi, Chief Consultant, Liver Transplantation and HPB Surgery at Manipal Hospital, Whitefield, Bangalore, revealed, “Wilson’s disease is a genetic disorder characterized by abnormal accumulation of copper in the brain, liver and eyes. It is an autosomal recessive transmission, which means that if both the carrier – father and mother – have Wilson’s disease, the child has a 1 in 4 chance of developing the condition. Wilson’s disease usually occurs in the age group of up to 20 years and the presentation is acute liver failure in 5% of cases while the remaining 95% present with chronic liver disease.

Elaborating on this, Dr. Senior Consultant of Gastroenterology at Max Super Specialty Hospital, Dehradun. Mayank Gupta said, “Wilson’s disease is inherited as an autosomal recessive trait, requiring one copy of the defective gene from each parent to manifest symptoms. . If you have only one defective gene, you won’t get sick, but you can pass the gene on to your offspring and become a carrier. If your parents or siblings have Wilson’s disease, you may be more susceptible to the disorder. Consult your doctor about whether you should be tested for Wilson’s disease through genetics. Early diagnosis of the disease greatly increases the chances of successful treatment.”


According to Dr. Purushottam Vashishtha, the symptoms of Wilson’s disease can vary depending on which organs are affected and the severity of the condition. Some of the most common symptoms include:

  • Liver problems, such as jaundice, abdominal pain and enlarged liver
  • Neurological problems, such as tremors, difficulty speaking and muscle stiffness
  • Psychological problems, such as depression, anxiety and mood swings
  • Eye problems, such as brown rings around the cornea and difficulty seeing in low light

Dr Sanjeev Rohatgi points out, “If they have acute liver failure, symptoms of liver failure such as jaundice, ascites, abdominal distension, encephalopathy, and coagulopathy – abnormal coagulation – appear. These patients are often very ill and require an urgent liver transplant. The remaining 95% of patients have chronic liver disease where copper accumulation gradually affects the liver and eventually the liver becomes cirrhotic.”

Dr. Mayank Gupta said that although Wilson’s disease can be congenital, it does not cause any signs or symptoms until copper levels build up in the brain, liver or other organs. Depending on the areas of your body that the disease has damaged, your signs and symptoms will vary. They may include:

  • Fatigue, loss of appetite or stomach discomfort
  • Jaundice-like yellowing of the skin and whites of the eyes
  • Eye Color Golden-Brown (Kayser-Fleischer Rings)
  • Fluid accumulation in the legs or abdomen
  • Speech, swallowing, or motor coordination problems
  • Uncontrolled movements or stiff muscles


Dr Chetan Kalal, director of the Hepatology and Transplant Medicine Program at Nanavati Max Super Specialty Hospital, Mumbai, said, “Diagnosing Wilson’s disease can be challenging, as the symptoms are similar to other conditions. A complete medical history, physical examination and blood tests can help diagnose the disease. However, the gold standard for diagnosis is a liver biopsy, which can detect the presence of excess copper in the liver. Genetic testing can also confirm the presence of an ATP7B mutation.


Dr. Purushottam Vashishtha reveals, “Treatment for Wilson’s disease usually involves a combination of medication and dietary changes. The goal is to reduce copper levels in the body and prevent further organ damage. Medicines used to treat Wilson’s disease are called chelating agents, which bind to copper in the body and allow it to be excreted. The most commonly used chelating agent is penicillamine, although other drugs, such as triantine and zinc, may also be used. Dietary changes can also help manage the symptoms of Wilson’s disease. Foods high in copper, such as shellfish, liver and nuts, should be avoided. Instead, people with Wilson’s disease should focus on a balanced diet that includes plenty of fruits, vegetables, and whole grains.”

According to Dr. Chetan Kalal, the treatment involves removing excess copper from the body and preventing further accumulation. He said, “The primary treatment is drugs like chelating agents that bind to copper and remove it from the body. Zinc acetate and penicillamine are the two drugs most commonly used to treat Wilson’s disease. A liver transplant may be necessary in severe cases, especially if the liver has suffered irreversible damage. The success rate of liver transplantation for Wilson’s disease is high, and most patients see a significant improvement in their symptoms after the procedure. However, this is an expensive and invasive procedure, which is not viable for all patients.

Bringing his expertise to this, Dr. Sanjeev Rohatgi said, “There are some medications that help in chronic liver disease such as chelating agents like penicillamine, which are given with additional copper and zinc supplements to reduce copper absorption. the intestines Therefore, medical treatment gives us some time to stop the liver from rotting. Diagnosis is usually made with a urine test where copper levels are extremely high and a low ceruloplasmin test – a blood test that measures the amount of a protein (ceruloplasmin) in your blood that carries copper. Our aim is to identify these patients early and treat them initially with medical treatment and eventually with liver transplantation. If one of the parents is donating a liver, they will undergo genetic studies and tests, so that they are not likely to develop the disease themselves.”

Dr. Mayank Gupta asserts that patients with Wilson’s disease require lifelong care because acute liver failure can prevent treatment. Regular blood and urine tests are necessary to monitor the effectiveness of the medication. The condition can be managed by doctors who:

  • Chelating agents, which are drugs that remove copper from the body, contain zinc, which prevents the intestines from absorbing copper.
  • In many cases, medication can reduce or prevent organ damage and symptoms. Additionally, doctors may advise changing your diet to eliminate items high in copper.


Dr. Chetan Kalal said, “Wilson’s disease is a genetic disorder and cannot be completely prevented. However, early diagnosis and treatment can prevent serious complications and improve the quality of life of those affected by the disease. Regular check-ups and screening tests are essential if you have a family history of Wilson’s disease or are experiencing any symptoms.”

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