Wilson Disease Research Paper

Wilson disease

What is Wilson disease?

Wilson disease is a medical condition characterized by liver, neurologic, and psychological abnormalities related to the deposition of copper in the liver and brain. The condition occurs due to impaired copper metabolism, which result in copper build up in tissues. Most patients are diagnosed at age 5-35. Untreated Wilson disease frequently results in liver injury that often advances to liver cirrhosis and end-stage liver disease. Copper accumulation in the brain leads to movement abnormalities that progressively worsen – in late stages patients often have absent movement and speech (akinetic mutism).

If left untreated, Wilson disease leads to death – most patients die from liver failure. Due to

• How is Wilson disease treated?

What causes Wilson disease?

Wilson disease is caused by impaired copper metabolism that leads to the accumulation of copper in the body. Copper deposits into organs such as the liver and brain, producing abnormal symptoms and signs.

Elevated copper levels in the liver lead to injury and inflammation. Long-term liver inflammation typically causes scarring of the liver (cirrhosis). Patients may develop signs of chronic liver disease or liver failure. Copper deposition in brain tissue also results in neuronal injury and death, resulting in slurred speech, movement abnormalities, and depression. This may progressively worsen into a condition called akinetic mutism - absent movement or speech.

How common is Wilson disease?

Wilson disease is uncommon in the United States. Studies show that the condition affects men and women equally. Women have a higher likelihood of developing acute liver failure. Wilson disease has a worldwide prevalence of approximately 1 case per 30,000 live births. About 1 person in 90 has an abnormal copy of the ATP7B gene, which is highly associated with the disease.

What are the symptoms and signs of Wilson

One of the most fearful complications is liver cancer.

• The neurologic manifestations of Wilson disease often include slurred speech, trouble walking, ataxia, dystonia, and tremor (shaking).

• Psychological features often occur with neurologic disease. These symptoms typically include mood disorder (eg, depression, anxiety), personality change, and irritability.

• Kayser-Fleischer rings are a highly specific finding on physical examination characterized by brown discoloration around the iris. They are caused by copper deposition in Descemet’s membrane in the cornea of the eye.

• The diagnosis of Wilson disease is based on history, symptoms, and physical examination findings, but requires laboratory tests for confirmation.

• Your doctor will begin by ordering a comprehensive metabolic panel. If you have abnormal liver function they will typically order serum ceruloplasmin and copper levels.

• Wilson disease is treated with chelating agents eliminate copper from the body. This typically include D- Cuprimine (penicillamine) or Syprine