What is Wilson’s Disease?
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Wilson’s disease is a rare genetic disorder in which the body cannot properly eliminate copper.
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This leads to copper buildup in vital organs — mainly the liver, brain, and eyes.
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It is inherited in an autosomal recessive pattern (both parents must carry the defective gene).
Causes
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Mutation in the ATP7B gene, which normally helps transport copper into bile for excretion.
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As a result:
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Copper accumulates in the liver → liver damage.
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Excess copper spills into the bloodstream → deposits in brain, eyes, kidneys.
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Symptoms
Liver-related:
- Hepatitis, cirrhosis, jaundice, abdominal swelling (ascites).
Neurological:
- Tremors, difficulty speaking, poor coordination, involuntary movements, rigid muscles.
Psychiatric:
- Depression, personality changes, mood swings, memory loss.
Ocular (Eye):
- Kayser–Fleischer rings (golden-brown rings at the edge of the cornea, visible on slit-lamp exam).
Diagnosis
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Blood tests: low ceruloplasmin (copper-carrying protein).
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Elevated liver enzymes.
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24-hour urine copper test → increased copper excretion.
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Liver biopsy → copper content measurement.
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Eye exam (slit-lamp) for Kayser–Fleischer rings.
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Genetic testing (ATP7B mutation).
Treatment
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Chelation therapy:
- Penicillamine or Trientine → bind copper and increase excretion.
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Zinc therapy:
- Blocks copper absorption from food.
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Dietary modification:
- Avoid copper-rich foods (liver, shellfish, nuts, chocolate, mushrooms).
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Liver transplant:
- In advanced cases of liver failure.
Key Point
Wilson’s disease is fatal if untreated, but early diagnosis and lifelong treatment allow patients to live normal lives.
MBH/AB