Wilson

Wilson's Community

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Wilson’s Disease

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.

Symptoms

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.

Liver-Related Symptoms

Neurological And Psychiatric Symptoms

Diagnosis And Testing

Doctors use a combination of tests to diagnose Wilson’s disease, including:

Blood and urine tests

To check copper levels

Slit-lamp eye examination

To assess liver damage

Genetic testing

To identify ATP7B gene mutations

Liver biopsy

To measure copper concentration

Early detection is crucial to prevent severe complications.

Treatment And Management

While there is no cure for Wilson’s disease, it can be managed effectively with lifelong treatment:

Copper-chelating medications Penicillamine or Trientine

Which help remove excess copper

Liver function tests

To assess liver damage

Zinc therapy

Which blocks copper absorption from food

Dietary modifications

Avoiding high-copper foods (e.g., shellfish, nuts, chocolate, mushrooms)

Liver transplant

In cases of severe liver failure

With the right treatment plan, most individuals can lead full, healthy lives.

Living With Wilson’s Disease

Regular Monitoring And Treatment Compliance

Dietary Considerations

Mental and Emotional Well-being

Lifestyle Adaptations

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.