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Wilson’s Disease

What is Wilson’s Disease?

  • Wilson’s Disease is a rare inherited genetic disorder that causes excessive copper buildup in the body, especially in the liver, brain, and eyes.
  • Normally, excess copper is removed by the liver, but in this condition, it accumulates and damages organs.
  • Symptoms usually appear between ages 5–40, though the disease is present from birth.
  • Mutation in the ATP7B gene impairs copper transport and excretion.
  • Copper builds up in:
    • Liver → liver damage
    • Brain → neurological symptoms
    • Eyes → characteristic changes
  • Excess copper leads to cell damage and organ dysfunction.

Diagnosis of Wilson’s Disease

  • Blood and urine tests (copper levels)
  • Eye examination (Kayser–Fleischer rings)
  • Liver biopsy
  • Genetic testing

Symptoms of Wilson’s Disease

  • Liver-related
    • Jaundice (yellowing of skin/eyes)
    • Fatigue, loss of appetite
    • Abdominal swelling
    • Liver failure (advanced cases)
  • Neurological
    • Tremors
    • Difficulty speaking, swallowing, or coordination
    • Muscle stiffness or uncontrolled movements
  • Psychiatric
    • Mood changes, depression
    • Personality changes
    • Behavioral disturbances
  • Eye signs (Characteristic)
    • Kayser–Fleischer rings (brownish rings around cornea)

Complications of Wilson’s Disease

  • Liver cirrhosis and liver failure
  • Permanent neurological damage
  • Kidney problems (e.g., kidney stones)
  • Psychiatric disorders
  • Can be fatal if untreated

Treatment of Wilson’s Disease

  • Copper-chelating agents (remove excess copper)
  • Zinc therapy (prevents copper absorption)
  • Dietary copper restriction
  • Liver transplant in severe cases
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