Wilson's Disease

Wilson's disease, also known as hepatolenticular degeneration, is a rare genetic disorder characterized by excessive accumulation of copper in the body, particularly in the liver, brain, and other vital organs.

Causes and Risk Factors

Wilson's disease is caused by mutations in the ATP7B gene, which plays a crucial role in regulating the transport of copper in the liver. The mutation leads to impaired excretion of copper from the body, resulting in its accumulation. The condition is inherited in an autosomal recessive pattern, meaning that a person must inherit one defective gene from each parent to develop the disease.

Symptoms

The symptoms of Wilson's disease can vary widely and may include:

• Fatigue and weakness
• Tremors and difficulty with coordination and balance
• Difficulty speaking and swallowing
• Personality changes, such as mood swings and depression
• Jaundice (yellowing of the skin and eyes)
• Abdominal pain and swelling
• Kayser-Fleischer rings (copper deposits in the cornea)

Diagnosis

Diagnosing Wilson's disease can be challenging, but it typically involves a combination of:

• Physical examination and medical history
• Lab tests, such as liver function tests and serum ceruloplasmin levels
• Imaging studies, such as MRI or CT scans, to evaluate the liver and brain
• Genetic testing to identify mutations in the ATP7B gene

Treatment

Treatment for Wilson's disease typically involves:

• Chelating agents, such as penicillamine or trientine, to remove excess copper from the body
• Zinc supplements to help reduce copper absorption and promote excretion
• Liver transplantation in severe cases of liver damage
• Physical therapy and occupational therapy to manage neurological symptoms

Prognosis

If left untreated, Wilson's disease can lead to serious complications, such as liver failure, kidney damage, and neurological deterioration. However, with early diagnosis and treatment, many people with Wilson's disease can lead normal lives and experience significant improvement in their symptoms.

Prevention

There is no known way to prevent Wilson's disease, but genetic counseling and testing can help identify individuals who are at risk of developing the condition. Early screening and diagnosis can also help prevent long-term damage and improve treatment outcomes.