What is Wilson's Disease?

Wilson’s Disease Explained: Diagnosis, Diet & Prevention

Wilson's disease is a rare genetic disorder that causes copper to build up in the liver, brain, and eyes. It's usually diagnosed between the ages of 5 and 35, but it can affect people of any age.

Copper plays a vital role in maintaining healthy nerves, bones, and skin. Normally, the liver removes extra copper through bile, but in Wilson's disease, this process doesn't work properly. As a result, copper collects in the body and can lead to serious health problems if not treated.

The condition can be dangerous, but with early diagnosis and proper treatment, many people can live normal and healthy lives.

Read on to know the symptoms, causes, and how it can be managed!

What Are the Symptoms of Wilson's Disease?

Wilson's disease is inherited, but symptoms don't show up until copper builds up in parts of the body such as the brain, liver, or eyes-often between ages 5 and 40.

Symptoms can be wide-ranging and are sometimes mistaken for other conditions. Here's a quick look:

• Liver-related signs: Tiredness, poor appetite, nausea, belly pain, pale stool, dark urine, and yellowing of the eyes or skin (jaundice). In some cases, long-term liver damage leads to itchy skin, swelling, or weight loss.
• Nervous system & mental health: Trouble with movement, speech, or swallowing; muscle stiffness; mood swings; tremors; depression; anxiety; or even confusion about reality (psychosis).
• Eye symptoms: A special ring (Kayser-Fleischer ring) in the eye, usually seen during an eye exam, caused by copper buildup.
• Other possible symptoms: Anaemia, joint or bone pain, heart issues, or kidney problems like stones.

What Causes Wilson's Disease?

Wilson disease generally develops when you receive a defective ATP7B gene from each of your parents. This condition is autosomal recessive, which means a child must receive the faulty gene from each parent to develop the disease.

Unfortunately, parents who carry just one faulty gene don't show any symptoms but can still pass the gene to their children.

How Is Wilson's Disease Diagnosed?

Doctors generally start by checking your family and medical history, looking for signs linked to liver, brain, or eye issues. A special eye examination while using a slit lamp can reveal copper-coloured rings (Kayser-Fleischer rings) around the eyes, which is a common sign of the disease.

Your doctor may order a few tests to confirm Wilson's disease:

1. Blood tests check copper levels, ceruloplasmin (a copper-carrying protein), liver enzymes (ALT, AST), and red blood cells.
2. A 24-hour urine test, which measures how much copper your body is getting rid of.
3. When required, doctors may perform a liver biopsy by taking a tiny tissue sample to check for copper buildup or liver damage. If there are brain-related symptoms, imaging scans such as MRI or CT can help identify other conditions.

These tests together help doctors make an accurate diagnosis and plan the right treatment.

How Is Wilson's Disease Treated?

Treatment generally aims to lower copper buildup and protect your organs. Doctors generally use:

• A low-copper diet to reduce intake of food.
• Zinc supplements help prevent your body from taking in extra copper.
• Medicines (chelating agents) like penicillamine or trientine to pull excess copper out of the body.

Treatment is lifelong, and stopping it could cause serious liver problems. Regular blood and urine tests help keep track of how effectively the treatment is working. Moreover, if you're pregnant, your doctor may adjust medicine doses and advise on safe breastfeeding. Always follow your provider's guidance to stay healthy.

What Are the Complications of Wilson's Disease?

If not treated, Wilson's disease can lead to serious health issues—especially with the liver. These may include:

1. Liver damage over time
2. Swelling or inflammation of the liver (hepatitis)
3. Complete liver failure, in severe cases
4. Ongoing liver damage can cause scarring (cirrhosis), which may eventually lead to liver failure.

Copper buildup may also affect the brain, causing movement or mental health issues that can disrupt daily life. If not treated, the condition can sometimes turn serious and even become life-threatening.

What to Avoid Eating with Wilson's Disease?

If you are living with Wilson's disease, it's important to avoid copper-rich foods, such as:

• Shellfish
• Liver
• Chocolate
• Dried fruits
• Dried beans and peas
• Mushrooms
• Nuts

Additionally, check your tap water; if it comes from a well or copper pipes, use a filter. Before taking vitamins or supplements, ask your doctor, as some may contain copper.

Can Wilson Disease Be Prevented?

Wilson disease can't be avoided because it's usually inherited through genes passed down from parents. However, if it runs in your family, consult your doctor about genetic testing. This can help you understand your risk and take early steps if required.

Early detection and treatment of Wilson's disease is always essential to controlling this lifelong condition and staying healthy. Making dietary changes and staying consistent with medical check-ups also help control copper levels and prevent serious complications. In addition, you can easily lead a healthier and safer life with proper care.

You can even choose Star Health Insurance for reliable coverage and personalised support while ensuring you get the best care without worry.

Your health deserves the best protection!

Also Read:

→ What is Chronic Obstructive Pulmonary Disease

→ What Type of Disease is Sarcoidosis

→ What is Mucopolysaccharidosis

→ What is Hailey and Hailey Disease

→ What is a Dandy-Walker Malformation Associated With