
Wilson’s disease is a rare genetic disorder that causes excessive copper accumulation in the body, particularly in the liver, brain, and other vital organs. This occurs due to a mutation in the ATP7B gene, which impairs the body’s ability to eliminate excess copper. If untreated, Wilson’s disease can lead to severe liver and neurological damage, but with early diagnosis and proper management, individuals can lead normal lives.
The symptoms of Wilson’s disease vary based on the organs affected and can appear between the ages of 5 and 35, though some cases are diagnosed earlier or later.
Doctors use a combination of tests to diagnose Wilson’s disease, including:
To check copper levels
To assess liver damage
To identify ATP7B gene mutations
To measure copper concentration
Which help remove excess copper
To assess liver damage
Which blocks copper absorption from food
Avoiding high-copper foods (e.g., shellfish, nuts, chocolate, mushrooms)
In cases of severe liver failure
No, but it is manageable with lifelong treatment. Early diagnosis and adherence to treatment can prevent complications.
Yes, it is a genetic disorder inherited in an autosomal recessive manner, meaning both parents must be carriers for a child to develop the disease.
Yes, genetic testing and copper level screenings can detect the condition before symptoms develop, especially in families with a history of Wilson’s disease.
It is not recommended, as alcohol can further damage the liver, which is already vulnerable due to copper buildup.
Stopping medication can cause dangerous copper buildup, leading to severe liver failure and neurological issues. Always consult your doctor before making any changes.
Women with Wilson’s disease can have healthy pregnancies, but medication adjustments may be necessary. Regular monitoring by a healthcare provider is crucial.
Support groups, online communities, and organizations such as the Wilson Disease Association (WDA) provide resources, counselling, and peer connections.