Wilson's Disease

What is Wilson's Disease?

Wilson's disease is an inherited disorder that causes the body to retain copper in the liver, brain, and other organs. Copper is an essential mineral that the body needs in small amounts, but too much copper can be toxic.

Causes of Wilson's Disease

Wilson's disease is caused by a genetic mutation that affects the body's ability to metabolize copper. The mutation affects a protein called ATP7B, which is responsible for transporting copper out of the liver and into the bile ducts. When the ATP7B protein is not functioning correctly, copper builds up in the liver, eventually spilling over into the bloodstream and causing damage to other organs.

Symptoms of Wilson's Disease

The symptoms of Wilson's disease can vary widely, depending on the severity of the condition and the organs affected. Some common symptoms of Wilson's disease include:

• Liver Problems The most common symptom of Wilson's disease is liver damage, which can cause jaundice, abdominal pain, and liver failure.
• Neurological Problems Wilson's disease can also cause neurological problems, including tremors, difficulty walking, and cognitive impairment.
• Kayser-Fleischer Rings A distinctive sign of Wilson's disease is the presence of Kayser-Fleischer rings, which are a golden-brown discoloration of the eyes caused by copper accumulation in the cornea.
• Other Symptoms Other symptoms of Wilson's disease can include fatigue, muscle weakness, and joint pain.

Diagnosis of Wilson's Disease

Wilson's disease is usually diagnosed through blood and urine tests, which can detect elevated copper levels. A liver biopsy may also be performed to confirm the diagnosis and assess the extent of liver damage. Genetic testing may be used to identify the specific mutation responsible for the condition.

Treatment of Wilson's Disease

Wilson's disease is a chronic condition that requires lifelong management. The goal of treatment is to reduce the amount of copper in the body and prevent further damage to the liver and other organs.

• Medications Medications such as penicillamine and trientine can help to remove excess copper from the body. Zinc acetate can also be used to reduce copper absorption from food.
• Liver Transplant In severe cases of Wilson's disease, a liver transplant may be necessary to prevent liver failure and other complications.

FAQs

1. Is Wilson's disease hereditary?

Yes, Wilson's disease is an inherited condition caused by a mutation in the ATP7B gene.

2. Can Wilson's disease be cured?

There is no cure for Wilson's disease, but with proper treatment, the symptoms can be managed.

3. How common is Wilson's disease?

Wilson's disease is a rare condition, affecting approximately 1 in 30,000 people worldwide.

4. What is the prognosis for Wilson's disease?

With proper treatment, people with Wilson's disease can live normal, healthy lives. However, if left untreated, the condition can lead to liver failure and other complications.