Wilson Disease
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Overview
Wilson Disease is a rare inherited disorder that causes excess copper to build up in the body, particularly in the liver, brain, kidneys, and corneas of the eyes. Copper is an essential trace element needed by the body in small amounts, but in Wilson Disease, the liver is unable to remove excess copper properly. This buildup can lead to serious health problems, including liver failure, neurological issues, and psychiatric disorders.
Wilson Disease is caused by mutations in the ATP7B gene, which is responsible for regulating copper transport in the body. Without proper copper regulation, the body accumulates harmful levels of copper in various organs.
What Causes Wilson Disease?
Wilson Disease is caused by mutations in the ATP7B gene, leading to a defect in copper transport and accumulation. It is inherited in an autosomal recessive pattern, meaning both parents must carry one defective gene for a child to inherit the condition.
As copper builds up in the liver, it eventually spills into the bloodstream, affecting other organs like the brain and kidneys. The excess copper can cause cell damage and dysfunction in the affected organs, leading to the symptoms and complications associated with Wilson Disease.
What Are the Symptoms of Wilson Disease?
The symptoms of Wilson Disease can vary widely depending on the organs affected and the age at which symptoms appear. Common symptoms include:
- Jaundice (yellowing of the skin and eyes)
- Fatigue and weakness
- Abdominal pain and swelling
- Enlarged liver (hepatomegaly) or spleen (splenomegaly)
- Cirrhosis (scarring of the liver) and liver failure in advanced stages
- Tremors or shakiness
- Difficulty speaking (dysarthria)
- Swallowing difficulties (dysphagia)
- Movement problems (extrapyramidal symptoms, similar to Parkinson’s disease)
- Muscle rigidity and stiffness
- Personality changes
- Depression and mood swings
- Irritability and anxiety
- Cognitive impairment and difficulty concentrating
Kayser-Fleischer rings (brown or greenish deposits in the cornea, visible on an eye exam)
How is Wilson Disease Diagnosed?
Wilson Disease can be diagnosed through a combination of clinical evaluation, blood tests, imaging, and genetic testing:
- Blood tests: Elevated levels of serum copper, ceruloplasmin (a copper-carrying protein), and 24-hour urinary copper excretion can indicate Wilson Disease.
- Genetic testing: To identify mutations in the ATP7B gene.
- Liver biopsy: To assess copper levels in the liver tissue.
- Eye examination: To check for Kayser-Fleischer rings, a key diagnostic feature.
- MRI or CT scan: To evaluate the brain for neurological involvement, particularly basal ganglia damage.
How is Wilson Disease Treated?
The treatment of Wilson Disease focuses on reducing copper levels in the body and preventing organ damage. Key treatment strategies include:
- Chelating agents: Medications like penicillamine or trientine that bind to copper and help remove it from the body.
- Zinc: Zinc supplements can help block copper absorption from the digestive system.
- Dietary changes: Avoiding foods that are high in copper, such as liver, shellfish, and mushrooms.
- Liver transplantation: In cases of severe liver damage or liver failure, a liver transplant may be necessary to replace the diseased liver with a healthy one.
Early treatment is critical to prevent irreversible damage to the liver, brain, and other organs.
Who is at Risk for Wilson Disease?
Wilson Disease affects individuals who inherit two defective copies of the ATP7B gene—one from each parent. Both parents must be carriers of the gene for their child to inherit the disorder. It is more commonly diagnosed in children and young adults, but symptoms can develop at any age.
The disease is more common in individuals of European descent but can affect people of all ethnic backgrounds.
What is the Outlook for People with Wilson Disease?
With early diagnosis and appropriate treatment, most individuals with Wilson Disease can live a normal life and avoid serious complications. However, without treatment, Wilson Disease can lead to irreversible liver damage, neurological impairment, and psychiatric problems. In severe cases, liver failure can occur, and a liver transplant may be necessary.
When treatment begins early, copper levels in the body can be effectively controlled, and organ damage can be prevented or even reversed. Regular monitoring is essential to ensure that copper levels remain stable and to adjust treatment as needed.
How Can Liver Transplantation Portal Help You?
At Liver Transplantation Portal, we connect patients with Wilson Disease to expert hepatologists, genetic counselors, and liver transplant centers. We provide guidance through diagnosis, copper management, and treatment options, including liver transplantation for those with severe liver damage.
Why Choose Liver Transplantation Portal?
We are dedicated to offering compassionate, specialized care for individuals with Wilson Disease. With access to leading specialists, advanced treatment options, and liver transplantation centers, Liver Transplantation Portal ensures you receive the best care for this complex condition.
Contact us today to learn more about Wilson Disease and how we can assist you in managing this condition and improving your family’s liver health.