Wilson Disease

Wilson Disease: A Comprehensive Guide

What is Wilson Disease?

Wilson disease is a rare genetic disorder that affects copper metabolism. It is characterized by the accumulation of copper in the liver, brain, and other organs.

Copper is an essential trace element that is required for a number of bodily functions, including energy production, nerve function, and immune system function. However, too much copper can be toxic.

Causes of Wilson Disease

Wilson disease is caused by mutations in the ATP7B gene. This gene encodes a protein that is responsible for transporting copper out of the liver.

Mutations in the ATP7B gene can lead to a build-up of copper in the liver, which can then spread to other organs and cause damage.

Symptoms of Wilson Disease

The symptoms of Wilson disease can vary depending on the severity of the condition and the organs that are affected.

Common symptoms include:

• Liver problems, such as jaundice, abdominal pain, and fatigue
• Neurological problems, such as tremors, difficulty walking, and speech problems
• Psychiatric problems, such as depression, anxiety, and psychosis
• Eye problems, such as cataracts and Kayser-Fleischer rings
• Joint pain
• Kidney problems
• Heart problems

Diagnosis of Wilson Disease

Wilson disease is diagnosed based on a combination of symptoms, physical examination, and laboratory tests.

Laboratory tests that can be used to diagnose Wilson disease include:

• Serum copper levels
• 24-hour urine copper levels
• Liver biopsy

Treatment of Wilson Disease

The treatment of Wilson disease aims to reduce the amount of copper in the body and prevent further damage to the liver and other organs.

Treatment options include:

• Chelation therapy, which involves taking medications that bind to copper and help to remove it from the body
• Liver transplant, which may be necessary in severe cases

Prognosis of Wilson Disease

The prognosis for Wilson disease varies depending on the severity of the condition and the timeliness of diagnosis and treatment.

Early diagnosis and treatment can help to prevent or minimize damage to the liver and other organs.

However, if the condition is not diagnosed and treated early, it can lead to serious complications and even death.

Additional Information

For more information on Wilson disease, please visit the following websites:

• Mayo Clinic
• National Institute of Diabetes and Digestive and Kidney Diseases
• National Library of Medicine