Wilson Disease

Wilson 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 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 disease can vary widely and may include:

• Fatigue and weakness
• Loss of coordination and balance
• Tremors and involuntary movements
• Difficulty speaking and swallowing
• Abdominal pain and swelling
• J jaundice (yellowing of the skin and eyes)
• Psychiatric symptoms, such as depression and anxiety

Diagnosis

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

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

Treatment and Management

Treatment for Wilson disease typically involves:

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

Prognosis and Complications

If left untreated, Wilson disease can lead to serious complications, including:

• Liver failure and cirrhosis
• Neurological damage and disability
• Psychiatric disorders and cognitive impairment
• Kidney damage and failure

Early diagnosis and treatment can significantly improve the prognosis and quality of life for individuals with Wilson disease.