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Genetics of Wilson Disease

written by: R. Elizabeth C. Kitchen•edited by: Leigh A. Zaykoski•updated: 6/27/2011

Are you looking for more information on Wilson disease? If so, read on to learn more about this disease and the genetics of Wilson disease.

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    Wilson disease is a genetic condition in which copper builds up and accumulates in the eyes, brain, liver, and other organs. As time passes, this accumulation of copper results in too much being in the body, which can lead to organ damage, and in some cases, death. This condition is also sometimes referred to as copper storage disease, WD, and hepatolenticular degeneration syndrome. Understanding the genetics of Wilson disease will help both patients and healthcare providers best treat this condition.

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    Incidence

    This condition is rare. It is estimated that it affects approximately one in 30,000 people.

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    Symptoms

    Wilson disease can affect several of the patient's body systems. The brain and liver are most often affected first, with symptoms beginning as early as 4 years old and as late as 70 years of age. Brain and liver symptoms include:

    • Jaundice
    • Loss of appetite
    • Easy bruising
    • Fatigue
    • Swelling in the abdomen

    Mental health problems and nervous system issues can affect young adults and young children with this condition. Such symptoms include:

    • Clumsiness
    • Difficulty walking
    • Problems with school work
    • Anxiety
    • Trembling
    • Problems with speech
    • Depression
    • Mood swings

    Vision problems and eye changes can include:

    • Eye movement difficulties, specifically looking upwards
    • Kaysar-Fleischer rings

    Other possible symptoms include:

    • Anemia (low red blood cell count)
    • Low platelet count
    • High levels of amino acids, protein, and uric acid in the urine
    • Early onset of bone loss and arthritis
    • Low white blood cell levels
    • Slow clotting of blood
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    Treatment

    Patients who receive an early diagnosis and effective treatment plan can often go on to live a relatively healthy and normal life. The first steps in treating this condition include:

    • Reducing copper intake through dietary changes
    • Removing the extra copper in the body
    • Treating any central nervous system and liver damage

    Certain medications can be helpful in helping to “tell" the organs to release copper into the patient's bloodstream. These medications are referred to as chelating agents. The two most commonly used chelating agents include penicillamine and trientine. Both of these medications can cause side effects so the patient will have to evaluate the full benefits with a doctor.

    A medication known as zinc acetate can help to prevent the body from absorbing the copper in the food that the patient consumes. This can help the patient maintain healthy levels of copper in the body. This medication also has a few side effects, specifically stomach upset.

    When this condition results in severe liver damage, a liver transplant could be the patient's only option. In cases where the patient was diagnosed late, or when the patient is not responding to the medications or other treatment methods, the copper can build up in the liver causing irreversible damage, resulting in the need for a new liver.

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    Inheritance

    The genetics of Wilson disease shows that it is inherited in an autosomal recessive pattern. This condition is associated with an ATP7B gene mutation. This mutation can result in the protein responsible for helping to remove excess protein from the liver not working correctly.

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    Resources

    National Human Genome Research Institute. (2010). Learning About Wilson Disease. Retrieved on August 30, 2010 from the National Human Genome Research Institute: http://www.genome.gov/27532725

    MayoClinic.com. (2009). Wilson's Disease. Retrieved on August 30, 2010 from MayoClinic.com: http://www.mayoclinic.com/health/wilsons-disease/DS00411






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