Wilson Disease: A Comprehensive Guide to Causes, Symptoms, Diagnosis, and Treatment

What is Wilson Disease?

Wilson disease, also known as hepatolenticular degeneration, is a rare inherited disorder that affects the metabolism of copper in the body. Copper is an essential trace mineral that plays a vital role in various bodily functions, but excess copper can accumulate and cause damage to the liver, brain, and other organs.

Causes of Wilson Disease

Wilson disease is caused by a genetic mutation in the ATP7B gene, which is responsible for transporting copper out of the liver and into the bloodstream. This mutation leads to a buildup of copper in the liver, causing damage to liver cells and impairing its function.

The genetic mutation responsible for Wilson disease is inherited in an autosomal recessive pattern, meaning that both parents must carry the defective gene for a child to inherit the condition.

Symptoms of Wilson Disease

The symptoms of Wilson disease vary depending on the organs affected and the severity of the condition. Some common symptoms include:

• Liver damage: Jaundice, fatigue, abdominal pain, nausea, vomiting
• Neurological problems: Tremors, muscle stiffness, difficulty with speech and coordination, psychiatric disturbances
• Eye problems: Kayser-Fleischer rings (abnormal brown or green rings around the cornea), corneal clouding
• Kidney problems: Kidney stones, renal failure

Diagnosis of Wilson Disease

Diagnosis of Wilson disease involves a combination of physical examination, blood tests, liver biopsy, and genetic testing. Blood tests can reveal elevated levels of copper in the blood and decreased levels of ceruloplasmin, a protein that binds to copper in the blood.

Liver biopsy can provide direct evidence of copper accumulation and liver damage. Genetic testing can confirm the presence of the ATP7B gene mutation.

Treatment of Wilson Disease

Treatment for Wilson disease aims to reduce copper levels in the body and prevent further damage to the liver and other organs. The main treatment options include:

• Chelation therapy: Medications such as penicillamine and trientine bind to copper and promote its excretion in the urine.
• Zinc supplements: Zinc inhibits the absorption of copper in the gut, reducing the amount of copper that enters the bloodstream.
• Liver transplantation: In severe cases where the liver is extensively damaged, liver transplantation may be considered.

Wilson Disease