Frequently Asked Questions
What causes Wilson's disease?
A mutation in the ATP7B gene causes Wilson's disease. This gene is responsible for transporting copper from the liver and into the bile ducts. The mutation results in the accumulation of excessive copper in various organs and tissues, particularly the liver and brain.
What are the symptoms of Wilson's disease?
The symptoms of Wilson's disease can vary widely, but often include tremors, difficulty speaking, personality changes, abdominal pain, fatigue, and joint pain. The disease can cause liver failure and neurological damage if left untreated.
How is Wilson's disease diagnosed?
The diagnosis of Wilson's disease typically involves blood tests to measure copper levels and liver function and imaging tests to assess the liver (USG) and brain (MRI). A liver biopsy may also be performed to confirm the diagnosis.
Is Wilson's disease hereditary?
Yes. Wilson's disease is an autosomal recessive genetic disorder, meaning that an individual must inherit two copies of the mutated gene (one from each parent) to develop the disease. If only one parent carries the mutation, their children have a 50% chance of inheriting the disease.
Can Wilson's disease be cured?
While there is no cure for Wilson's disease, it can be effectively managed with medication and dietary changes.
Treatment involves reducing the body's copper levels and managing any complications that may arise. There are several drugs that are used to treat Wilson's disease by reducing the amount of copper in the body. These include:
Penicillamine: This drug binds to copper in the body and helps remove it through urine.
Trientine: Similarly to penicillamine, trientine binds to copper and helps remove it from the body.
Zinc acetate: Zinc blocks the absorption of copper in the gut, reducing the amount of copper that is absorbed into the bloodstream.
Tetrathiomolybdate: This drug binds to copper and prevents it from being released from the liver.
In addition to these drugs, some people with Wilson's disease may require other medications to manage symptoms such as tremors, stiffness, and anxiety.
It is important to work closely with a healthcare provider to develop an individualized treatment plan based on the specific needs and symptoms of each individual with Wilson's disease. Regular monitoring of copper levels and liver function is also essential to ensure effective treatment and manage any potential complications.
What is the prognosis for Wilson's disease?
With proper treatment, the prognosis for Wilson's disease is generally reasonable. However, if left untreated, the disease can be fatal. It is important to receive prompt diagnosis and treatment to prevent complications and improve outcomes.
Can Wilson's disease be prevented?
As a genetic disorder, it is impossible to prevent Wilson's disease. However, individuals with a family history of the disease may choose to undergo genetic testing to determine their risk and make informed decisions about family planning.
What are the foods to be avoided in Wilson's disease?
Individuals with Wilson's disease should avoid foods high in copper, which can exacerbate symptoms and lead to complications. Here are some foods to avoid:
Organ meats: Liver, kidney, and other organ meats are high in copper and should be avoided.
Shellfish: Shellfish such as lobsters, crabs, and oysters are also high in copper and should be limited or avoided.
Nuts and seeds: Certain nuts and seeds, such as almonds, cashews, and sesame seeds, are high in copper and should be avoided.
Chocolate: Chocolate contains high levels of copper and should be limited or avoided.
Mushrooms: Certain varieties of mushrooms, such as shiitake mushrooms, contain high levels of copper and should be limited or avoided.
Soy products: Soy products such as soy milk and tofu are high in copper and should be limited or avoided.
Whole grains: Whole grains such as wheat, oats, and barley contain copper and should be limited or avoided.
It is important to note that dietary restrictions should be discussed with a healthcare provider or registered dietitian, as a balanced diet is still important for overall health and well-being. In some cases, copper supplements can be recommended to ensure adequate nutrition.
Dr. Lekhjung Thapa, MD, DM (Neurology)
Associate Professor of Neurology
Senior Consultant Neurologist