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Diseases

Wilson’s Disease

Wilson’s disease is a rare genetically inherited condition in which abnormal amount of copper is accumulated in the liver. The disease affects approximately one person in 30,000 worldwide and both men and women can be affected equally. The disease is named after the scientist Samuel Kinnear Wilson who identified it in 1912. Wilson’s disease is also known as ‘hepatolenticular degeneration’.

Wilson’s disease is caused by a genetic defect by which the liver is unable to metabolise and remove unnecessary amounts of copper from the body as it normally does. Some copper is important for the body as it plays a key role in the development of healthy nerves, bones, collagen and the skin pigment melanin. Normally, copper from the diet is absorbed by the small intestine and is bound to the protein, albumin, and transported to the liver. In the liver, the unused copper is removed by the bile ducts through bile, a fluid produced by the liver to aid digestion. Any blockage of this pathway leads to a copper build up in the liver leading to liver damage. The excess copper then enters the bloodstream depositing it primarily to the brain, but also the eyes, kidneys and joints. A characteristic sign of the presence of Wilson’s disease is a rusty or coppery brown ring around the transparent part of the eye (cornea), known as the Kayser-Fleischer ring. These rings are not always visible to the naked eye and are only present in around 50% of people with the disease.. 

Since the liver is the first organ affected by copper accumulation, 50% of the persons will show the toxic effects in the liver leading to toxic effects such as inflammation (hepatitis), scarring (fibrosis) and eventually leading to irreversible scarring, cirrhosis, and liver failure.

Risk Factors

Wilson’s disease has a genetic basis and an increased risk for the disease exists if your parents or siblings have the condition. Hence, genetic testing for the disease for close family is always recommended.

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    Symptoms

    Copper begins to build up at birth, hence symptoms appear after several decades or more before the liver is burdened. Then symptoms of liver damage begin to appear. Symptoms usually appear between the ages of 6 and 40, most commonly in late adolescence or teens.

    • No symptoms but lab test showing some mild abnormalities in liver enzymes
    • Yellowing of the skin and whites of the eyes (jaundice)
    • Swelling caused by fluid in the abdomen (ascites)
    • Vomiting blood from bleeding of the blood vessels of the upper gut vessels
    • The toxic effects of copper accumulation on the nervous system can lead to:
      • Clumsiness and loss of physical coordination
      • Loss of muscle control and abnormal contraction with tremors in the arms, legs and head
      • Abnormal posture
      • Repetitive gestures
      • Slowness of movement (bradykinesia)
      • Loss of voice, slurring, drooling
      • Difficulty in swallowing
      • Loss of memory and mental confusion
    • About 30% of will experience psychiatric symptoms:
      • Personality change
      • Worry or anxiety (neurosis)
      • Depression and mood swings
      • Suicidal or homicidal thoughts
      • Delusions or hallucinations (psychosis)

    Investigations

    Early diagnosis of Wilson’s disease can be effectively treated. If left to progress, the disease is always fatal.

    • Liver function tests (LFTs)
      • Levels of liver enzymes, alanine aminotransferase (ALT) and aspartate aminotransferase (AST are usually high when liver inflammation (hepatitis) is present
      • Caeruloplasmin concentration test in the blood are likely to be lower than normal
    • Urine test to measure copper passed into urine over 24 hours may show increase of copper
    • Imaging tests
      • For the liver, ultrasound, CT and MRI imaging techniques are used
      • For the brain, CT and MRI may be used to examine a specific area of the brain, the basal ganglia, responsible for controlling body movements
    • Liver biopsy
      A liver biopsy will have increased amounts of copper in the liver. In addition, this test can also indicate the degree of liver damage. The liver tissue is extracted by inserting a thin long needle directly into the liver for analysis under a microscope.

    Treatment

    The goal is to remove the excess copper from the body and preventing it from building up again.

    Medical treatment

     ‘Chelating’ agents can remove copper from the body by binding with the copper and eliminating it in the urine, and can be used as a lifelong treatment (maintenance therapy) with regular monitoring for side-effects

    • D-penicillamine is usually the first choice, but can cause joint pain, rash, losing sense of taste, or some serious bleeding and bruising
    • Trientine dihydrochloride has lesser side effects

    Medical attention is needed to reduce the dosage of D-penicillamine or switch to trientine. Usually, improvement is seen by three months of chelating therapy

    • Zinc acetate, taken for 4-8 weeks, blocks the absorption of copper from the intestinal cells and gets eliminated in the stools. However, a course of chelation therapy is used to first lower copper levels.

    Surgical treatment

    When the liver damage is severe, and signs of liver failure are present, a liver transplant is the only option.

    Prevention

    Prevention of Wilson’s disease is not possible as it is because of a genetic defect, but one can avoid or limit the following foods that contain very high amounts of copper:

    • Mushrooms
    • Chocolate
    • Dried beans, peas, and lentils
    • Whole grains such as wheat, barley and millet
    • Nuts and dried fruits
    • Soya products such as soya milk and tofu
    • Meats of liver, heart and kidneys
    • Shellfish such as oysters, mussels, shrimps and prawns

    As in all liver diseases, limit or stop drinking alcohol.