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Yashoda Hospitals > Diseases & Treatments > Neurology & Neurosurgery > Wilson’s disease

Wilson’s disease

Types, causes, symptoms, diagnosis, treatments

What is Wilson’s disease?

Wilson’s disease, or copper disease, is a rare disorder marked by elevated copper levels in different body areas, including the liver, brain, and eyes. Copper is consumed through diet and is essential for many body functions, including the immune system, nerve function, and the production of red blood cells. However, excessive copper buildup can result in organ damage and other potentially fatal issues.

Wilson disease

What are the causes?

  • A mutation in the ATP7B protein gene, which facilitates the excretion of excess copper by transporting it into the bile, causes Wilson’s disease, which typically runs in families.
  • Wilson’s disease is caused by inheriting two abnormal genes, one from each parent.

What are the signs & symptoms associated with various organs?

Liver:

  • Reduced appetite
  • Upper abdominal pain
  • Pale eyes and yellowing of the skin (jaundice)
  • Feeling extremely tired
  • Nausea & vomiting
  • Itchy skin
  • Swelling of lower limbs and ankles (edema)
  • Light-colored stools and dark urine

Eye:

  • Brown- or gold-coloured ring around the corneal edge (Kayser-Fleischer ring)

Neuropsychiatric symptoms :

  • Speech problem
  • Memory issues
  • Walking challenges
  • Tremors
  • migraines
  • seizures
  • Depression
  • Anxiety

Some additional signs of Wilson’s disease include kidney problems, anemia, osteoporosis, or the appearance of blue nails.

How to diagnose Wilson’s disease?

The diagnosis of Wilson’s disease is quite challenging, as parents with a single mutated gene are carriers to their children but often remain asymptomatic. Furthermore, even though the condition is congenital, the child may not exhibit symptoms until they are five years old or much older. However, Wilson’s disease can be ruled out with the help of standard diagnostic procedures like liver enzyme tests, blood and urine tests to measure copper levels, and imaging tests like MRIs, CT scans, and liver biopsies. Early identification and accurate diagnosis based on the person’s symptoms can stop copper toxicity through optimal treatment plans & appropriate care.

What is the treatment for Wilson’s disease?

  • Avoiding foods rich in copper, such as chocolates, nuts, shellfish, and mushrooms, can help prevent excess copper accumulation.
  • A chelating agent called penicillamine binds to the body’s excess copper & eliminates it through the urine. Once the copper level is measured during the initial dose, the doctors switch from prescribing high doses of penicillamine to maintenance doses.
  • Prescribing zinc formulations aids in stabilizing the copper levels by decreasing the intestinal absorption and improving the excretion into the bile.
  • For people who have tremors, stiff muscles, etc., physical and occupational therapy can help alleviate the symptoms.
  • A liver transplant may be a viable option in severe Wilson’s disease, where the liver is completely damaged and cannot be treated with medicine.
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FAQ's

    Since Wilson’s disease is associated with gene mutations, the cure for it is quite challenging; however, if it is identified in the early stages and the liver is not severely damaged, it can be managed with medications, and quality of life can be significantly improved.

    The liver is the most affected organ in Wilson’s disease, & so fatty liver is a common manifestation of this condition. However, it is often misdiagnosed as non-alcoholic fatty liver disease. It is crucial to conduct further tests, such as genetic assessments, serum ceruloplasmin levels (the copper transport protein), a 24-hour urine test, and a liver biopsy to identify Wilson’s disease at an early stage.