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Wilson's disease

  • Alternative Names

    Hepatolenticular degeneration


    Symptoms
    • Abnormal posture of arms and legs
    • Confusion or delirium
    • Dementia
    • Difficulty moving arms and legs, stiffness
    • Difficulty walking (ataxia)
    • Emotional or behavioral changes
    • Enlargement of the abdomen (abdominal distention)
    • Personality changes
    • Phobias, distress (neuroses)
    • Slow movements
    • Slow or decreased movement and expressions of the face
    • Speech impairment
    • Tremors of the arms or hands
    • Uncontrollable movement
    • Unpredictable and jerky movement
    • Vomiting blood
    • Weakness
    • Yellow skin (jaundice) or yellow color of the white of the eye (icterus)

    Signs and tests

    A slit-lamp eye examination may show:

    • Limited eye movement
    • Rusty or brown-colored ring around the iris (Kayser-Fleischer rings)

    A physical examination may show signs of:

    • Damage to the central nervous system, including loss of coordination, loss of muscle control, muscle tremors, loss of thinking and IQ, loss of memory, and confusion (delirium or dementia)
    • Liver or spleen disorders (including cirrhosis, splenomegaly, and liver necrosis)

    Lab tests may include:

    • Complete blood count (CBC)
    • Serum ceruloplasmin
    • Serum copper
    • Serum uric acid
    • Urine copper

    If there are liver problems, lab tests may find:

    • High AST and ALT
    • High bilirubin
    • High PT and PTT
    • Low albumin

    Other tests may include:

    • 24-hour urine copper test
    • Abdominal x-ray
    • Abdominal MRI
    • CT scan of the abdomen
    • Head CT scan
    • Head MRI
    • Liver biopsy

    The gene responsible for Wilson's disease has been found. It is called ATP7B. DNA testing is available for this gene. However, testing is complicated because different ethnic groups may have different changes (mutations) in this gene.