Wilsons Disease

Wilson's disease is a rare, inherited health problem. It happens when the body can't get rid of extra copper. This extra copper builds up in important organs like the liver, brain, and eyes. Most people find out they have Wilson's disease between the ages of 5 and 35, but it can affect people of any age.

Copper is a vital nutrient our bodies need. It's important for healthy nerves, bones, skin, and even the pigment that gives our skin its color. We usually get copper from the food we eat. Normally, our livers produce a special substance called bile that helps remove extra copper from our bodies. But in people with Wilson's disease, this removal process doesn't work correctly. The copper builds up, potentially causing serious health problems. If left untreated, Wilson's disease can be life-threatening.

However, if diagnosed early, Wilson's disease is treatable. Many people with the condition can lead full and healthy lives with proper medical care.

Wilson's disease is a condition you're born with, but you might not notice any problems until too much copper builds up in your body. This copper buildup can happen in your brain, liver, eyes, or other organs. Because of this, the symptoms of Wilson's disease can be very different from person to person.

Some common signs include:

• Feeling tired and not wanting to eat as much as usual. This is a general symptom that can be caused by many things.
• Yellowing of your skin and the whites of your eyes (jaundice). This is a sign of liver problems, as the liver plays a role in filtering waste products from your blood.
• Rings around your eyes (Kayser-Fleischer rings). These rings are a specific sign of Wilson's disease and are caused by copper deposits in the part of the eye behind the colored part.
• Swelling in your legs or belly. This swelling can be a sign of fluid buildup, often due to problems with the liver.
• Trouble speaking, swallowing, or moving your body. These problems can stem from the copper buildup affecting parts of your nervous system.
• Changes in mood and personality. Wilson's disease can affect brain function, leading to feelings of sadness, irritability, or changes in how you act.
• Difficulty sleeping. This can be another sign of the brain being affected by copper buildup.
• Unwanted movements or stiff muscles. These are neurological symptoms, which means they're related to your nervous system and the way your muscles work.

If you or someone you know is experiencing any of these symptoms, especially if there's a family history of Wilson's disease, it's important to see a doctor. Early diagnosis and treatment are key to managing this condition.

If you're experiencing symptoms that concern you, schedule a visit with your doctor or other primary care provider. This is particularly important if someone in your family has a history of Wilson's disease. Wilson's disease is a genetic condition that affects how your body handles copper. If left untreated, it can cause serious health problems. Seeing a doctor promptly can help determine if there's a problem and start any necessary treatment.

Wilson's disease is a condition passed down through families. It happens when a person inherits a faulty gene from both parents. If a person only inherits one faulty gene, they won't develop the disease themselves. Instead, they're called a carrier. This means they can still pass the faulty gene on to their children, who might then develop the disease.

If you have a family history of Wilson's disease—meaning a parent or sibling has it—you might be more likely to have it yourself. To find out if you're at risk, talking to your doctor about genetic testing is a good idea. Catching Wilson's disease early is key to successful treatment. Early diagnosis significantly improves the chances of effective treatment working.

Untreated Wilson's disease can be life-threatening. It can cause serious problems, including:

Liver damage: High levels of copper in the body can damage the liver. As the liver tries to repair this damage, scar tissue builds up (cirrhosis). This makes the liver less able to function properly. In some cases, the liver damage happens quickly (acute liver failure), while in others, it develops slowly over time. A liver transplant may be necessary in severe cases.

Nervous system problems: Wilson's disease can cause tremors, uncontrolled muscle movements, difficulty walking, and trouble speaking. While treatment often improves these symptoms, some people may have lasting nervous system issues even after receiving treatment.

Kidney problems: Wilson's disease can harm the kidneys, potentially leading to kidney stones and an abnormal amount of amino acids being passed in the urine.

Mental health issues: People with Wilson's disease may experience changes in personality, depression, irritability, bipolar disorder, or psychosis.

Blood problems: In some cases, Wilson's disease can cause the body to destroy red blood cells (hemolysis). This can lead to anemia (low red blood cell count) and jaundice (yellowing of the skin and eyes).

A liver biopsy is a medical procedure where a small piece of liver tissue is taken for testing in a lab. This is usually done by inserting a thin needle through the skin into the liver. Doctors use this to help diagnose problems, including Wilson's disease.

Wilson's disease can be tricky to diagnose because its symptoms often mimic other liver conditions, like hepatitis. Symptoms also develop gradually over time. This makes it hard to connect certain behavioral changes with Wilson's disease. Diagnosing Wilson's disease relies on a combination of symptoms and test results.

Here are some of the tests and procedures used to diagnose Wilson's disease:

• Blood and urine tests: These tests are important for several reasons. Blood tests check how well your liver is working and measure the level of a protein called ceruloplasmin. Ceruloplasmin helps carry copper in the blood. Blood tests also check your blood copper levels. Your doctor might also ask for a 24-hour urine collection to measure how much copper your body is getting rid of.

• Eye exam (slit-lamp exam): A specialist uses a special microscope to look for Kayser-Fleischer rings in the eyes. These rings are a sign of extra copper in the body and are a key indicator of Wilson's disease. Another possible sign is a type of cataract called a sunflower cataract, which can be seen during an eye exam.

• Liver biopsy: A small sample of liver tissue is removed for testing. A doctor inserts a thin needle through the skin into the liver and takes a small piece of tissue. A lab analyzes this tissue to check for excess copper.

• Genetic testing: A blood test can identify specific gene changes that cause Wilson's disease. If someone has the gene mutation, doctors can test other family members, especially siblings, to see if they also carry it. Early detection allows for treatment before symptoms appear.

Mayo Clinic offers expert care for Wilson's disease. Their team of specialists can help with diagnosis and treatment. They provide various services, including genetic testing, liver biopsies, and liver function tests.

Wilson's Disease Treatment Explained

Wilson's disease is a condition where the body builds up too much copper. This extra copper can damage vital organs, especially the liver and brain. Doctors use several strategies to manage the disease, focusing on removing the excess copper and preventing further buildup.

Medications:

Doctors often prescribe medications called copper chelating agents. These medications work by binding to the copper, helping the body to release it. The kidneys then filter out the copper, removing it from the body through urine. The goal is to stop the copper from accumulating again. This treatment is usually lifelong.

• Penicillamine (Cuprimine, Depen): This is a common copper chelating agent. While effective, it can have serious side effects, including problems with the skin, kidneys, and nervous system. It can also suppress the bone marrow, reducing the body's ability to produce enough red blood cells and platelets. People with a penicillin allergy should use this medication with caution. Crucially, penicillamine interferes with vitamin B6 absorption, so a B6 supplement is usually needed.

• Trientine (Cuvrior, Syprine): This is another copper chelating agent that's similar to penicillamine but generally causes fewer side effects. However, it can sometimes worsen nervous system symptoms.

• Zinc acetate (Galzin): This medication helps prevent the body from absorbing copper from food. It's often used after treatment with penicillamine or trientine to prevent copper buildup. It might also be the primary treatment if penicillamine or trientine isn't suitable or if there are no symptoms. Zinc acetate can sometimes cause stomach upset.

Other Treatments:

Doctors may also recommend other treatments to manage symptoms of Wilson's disease.

Liver Transplant:

In severe cases where the liver is significantly damaged, a liver transplant might be necessary. During a liver transplant, the diseased liver is removed and replaced with a healthy one. Most transplants use livers from deceased donors. However, sometimes a living donor, such as a family member, can donate a portion of their liver to the recipient. In a living donor transplant, surgeons remove a portion of the donor's liver and place it in the recipient. This procedure is complex, and the decision to have a liver transplant is made on a case-by-case basis.

Important Note: This information is for general knowledge only and should not be considered medical advice. Always consult with a healthcare professional for accurate diagnosis and treatment options for Wilson's disease.