Wilson's disease - A rare disorder of copper metabolism

A rare inherited disorder can cause dangerous levels of copper to build up in your body. Understanding what is Wilson's disease is vital for early diagnosis and management.

What are the main causes of Wilson's Disease?

• This condition is a rare genetic liver disease caused by an inherited mutation in the ATP7B gene, which must be passed down from both parents.
• The faulty gene prevents the liver from properly filtering and removing excess copper from the body, leading to a toxic copper overload in various organs.
• Over time, this copper accumulation primarily damages the liver, brain, and eyes, causing a wide range of progressive and serious health problems if untreated.

Key symptoms of Wilson's Disease to watch for

• Hepatic Wilson's disease symptoms can mimic other liver diseases and include fatigue, jaundice (yellowing skin), and fluid buildup causing abdominal swelling.
• Neurological signs emerge as copper affects the brain, causing tremors, difficulty with speech or swallowing, poor coordination, and distinct personality changes.
• A highly specific sign is the presence of Kayser-Fleischer rings, which are brownish-gold rings that appear around the edge of the cornea in the eyes.

How is Wilson's Disease managed and treated?

• The primary Wilson's disease treatment involves using chelating agents, such as the medication penicillamine, which bind to copper and help excrete it.
• Maintenance therapy often includes zinc salts, which work by blocking the digestive tract from absorbing copper from the food you consume daily.
• Patients are also advised to follow a lifelong low copper diet, carefully avoiding foods like shellfish, nuts, chocolate, mushrooms, and organ meats.

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Image of the disease Wilson's Disease

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Wilson's disease is a lifelong condition, but with early diagnosis and consistent treatment, individuals can lead healthy, full lives. Always follow your specialist's advice for management.

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