Wilson's disease, also known as hepatolenticular degeneration, is a rare, inherited disorder characterized by the abnormal accumulation of copper in the body, particularly in the brain, liver, and cornea. It affects approximately 1 in 30,000 individuals.
Understanding Wilson's Disease
Here's a breakdown of key aspects of Wilson's disease:
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Genetic Basis: It's an autosomal recessive disorder. This means an individual must inherit two copies of the defective gene (one from each parent) to develop the disease.
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Copper Accumulation: The primary problem in Wilson's disease is the body's inability to properly excrete copper. This leads to a buildup of copper in various organs.
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Affected Organs: The most commonly affected organs are the:
- Brain: Copper deposits in the brain can cause neurological and psychiatric symptoms.
- Liver: Copper accumulation can lead to liver damage, ranging from mild inflammation to cirrhosis.
- Cornea: Copper deposits in the cornea can form Kayser-Fleischer rings, a characteristic sign of Wilson's disease.
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Symptoms: The symptoms of Wilson's disease can vary greatly depending on the age of onset and the extent of organ damage. They may include:
- Weakness
- Abdominal pain
- Jaundice (yellowing of the skin and eyes)
- Personality changes
- Seizures
- Difficulty with speech, swallowing, or coordination
- Tremors
Diagnosis and Treatment
Diagnosis typically involves blood and urine tests to measure copper levels, liver function tests, eye examination to check for Kayser-Fleischer rings, and sometimes a liver biopsy. Treatment focuses on removing excess copper from the body and preventing further accumulation. Medications like penicillamine and trientine are used to chelate (bind) copper, allowing it to be excreted in the urine. Zinc acetate can also be used to block the absorption of copper from food.
