Wilson’s Disease – Causes, Symptoms, Treatments, and More

What is Wilson’s disease?

Wilson’s disease is an inherited disorder that increases copper levels in the body. This leads to the accumulation of copper in the brain, liver and other vital organs. The disease prevents the body from removing extra copper from the body.

According to NCBI, about 1 in 30,000 individuals are affected by Wilson’s disease, and the disease will present itself as abdominal pain, weakness, seizures, jaundice and personality change.

Additionally, the disease primarily affects the brain and liver. Copper is important in developing healthy bones, nerves, and collagen and for producing skin pigment called melanin.

Copper is absorbed from the food we eat, and the excess is eliminated. People affected by Wilson’s disease will not be able to properly eliminate the copper, and it gets accumulated. The accumulation can damage the organs and becomes life-threatening. However, Wilson’s disease can be treated with medications and surgery.  

Symptoms of Wilson’s Disease

Wilson’s disease is an inherited disorder and will be present during the time of birth. The symptoms will not show up till the copper accumulation occurs in the liver, brain and other organs. However, the symptoms can occur depending on the body part that is affected.

Some of the common symptoms are

• Fatigue
• Abdominal pain
• Lack of appetite
• Jaundice (yellowing of skin and whites of the eye)
• Build up of fluid in the abdomen and legs
• Muscle stiffness
• Uncontrolled movements
• Golden-brown discolouration
• Problems with swallowing and physical coordination

People tend to develop specific symptoms between the age of 5-40. However, there are people who develop symptoms earlier. Sometimes, the body will exhibit symptoms depending on the affected body part.

Liver symptoms

People affected by Wilson’s disease will often develop symptoms of hepatitis. There will be inflammation of the liver, leading to a decrease in liver functions. These are some of the common symptoms if the liver gets affected:

• Nausea
• Vomiting
• Fatigue
• Poor appetite
• Dark-coloured urine
• Light colour stools
• Pain over the liver
• Yellow colour tint in the eye whites

However, some people will develop symptoms only if they are affected by chronic liver cirrhosis. The symptoms may present as

• Unexpected weight loss
• Fatigue
• Weight loss
• Itchy skin
• Severe jaundice
• Bloating due to the building up of fluid in the abdomen
• Swelling in legs, ankles and feet.

Central nervous system symptoms

Wilson’s disease, which affects the central nervous system, can lead to mental illness and other symptoms related to it. Some of the common symptoms include

• Muscle stiffness
• Problems with speech and coordination
• Tremors and uncontrolled movement
• Anxiety
• Depression
• Personality or behavioural disorder
• Psychosis

Eye symptoms

Wilson’s disease affects the eyes and will have symptoms like colour changes around the eyes. There will be a presence of gold, green or brown rings around the edges of the eyes or corneas. These rings around the eyes can be seen during a special eye examination.

Other symptoms

Wilson’s disease can also affect other parts of the body, and the other symptoms include.

• Bone and joint problems
• Heart problems
• Kidney problems
• Haemolytic anaemia

Causes of Wilson’s Disease

Wilson’s disease is caused due to mutation in the genes. When the gene (ATP7B) that is responsible for removing the extra copper from the body is mutated, it leads to Wilson’s disease. According to NCBI, the gene present on chromosome 13 controls the protein transporter responsible for removing the excess copper into the bile and out of the body.

A healthy liver will release the extra copper, which will then be stored in the gall bladder. The bile that is stored in the gall bladder will help with the digestion process.

The bile fluid helps remove the copper along with the other toxins from the body through the digestive tract. If a person has Wilson’s disease, the liver releases less or no copper into the bile, and then the extra copper stays in the body.

The excess copper present in the body leads to free radicals generation that causes the oxidation of lipids and other vital proteins. Oxidative stress can damage the cells and other organs like the liver.

Diagnosis of Wilson’s Disease

The diagnosis of Wilson’s disease is difficult as the symptoms resemble other liver diseases like hepatitis. Additionally, the symptoms may improve over time, and behavioural changes can set in. These symptoms can then link to Wilson’s disease.

When the doctor doubts the presence of Wilson’s disease certain tests and diagnosis will be recommended.

Blood tests

A blood test will help monitor the liver’s functions and check for the levels of a protein that binds the copper with the blood. The doctor will also suggest for a urine test to measure the amount of copper that is excreted for a period of 24 hours.

A 24-hour urine collection test

A 24-hour urine collection test can be done at home with a special container  that will be provided by the healthcare professional. The collected urine should be submitted to the laboratory to check for copper levels.

Liver biopsy

A liver biopsy will be done when blood test and urine test does not give a concluded diagnosis of the disease. The liver biopsy will require a small sample of liver tissues from the liver.

The healthcare professional will examine the liver tissues under a microscope and will check for features of specific liver diseases like liver damage, cirrhosis and Wilson’s disease.

Imaging tests

If a person has Wilson’s disease, which affects the nervous system, then imaging tests will be required to confirm the same.

Some of the commonly used imaging tests are

• X-ray
• MRI
• CT scan

Genetic testing

A blood test will be included to test for mutations in the genes. The doctor will ask for the medical history of the family, and depending on that, the treatment will be carried out.

Treatment of Wilson’s Disease

The treatment for Wilson’s disease will depend on the amount of copper present in the blood. The treatment will aim to protect against the copper damage caused to the organs.

Chelating agents

Chelating agents help remove the copper from the body. Initially, a small dose will be given and then gradually the dosage will be increased. The commonly used chelating agents are

• Penicillamine
• Trientine

The doctor will prescribe higher doses for people with more copper accumulation in the body. The dosage will be increased until extra copper is removed from the body.

When the symptoms improve, the doctor will again prescribe certain tests to diagnose the copper levels in the body. If the copper levels are normal, the doctor will reduce the dosage level. However, treatment will be required lifelong and maintenance of normal copper levels are mandatory.

Zinc

The zinc will prevent the intestines from absorbing copper. The zinc helps to remove the extra copper forgetting absorbed by the body. The doctor will prescribe zinc for people who have no symptoms of Wilson’s disease.

Surgery

If a person has severe liver damage, then the individual will require a liver transplant. The surgeon will remove the damaged liver and replace it with a healthy liver from the donor.

Prevention of Wilson’s Disease

Wilson’s disease cannot be prevented as it is an inherited disease. If Wilson’s disease run in the family, it can pass to the other generation.

Genetic counselling is crucial to prevent defective gene transmission and Wilson’s disease.

Living with Wilson disease

People affected by Wilson’s disease lead a normal life with the help of medications. Additionally, the doctor will recommend limiting or avoiding the consumption of copper.

With proper treatment and diet, Wilson’s disease can be treated. If left untreated, it can lead to life-threatening consequences.

When to consult a doctor?

Consult your doctor if you have symptoms resembling liver damage and other symptoms related to Wilson’s disease.

Do not take any symptoms lightly, as they can worsen over time. Consult your doctor if you have symptoms like

• Poor appetite
• Dark-coloured urine
• Problems with swallowing and coordination

Conclusion

Wilson’s disease can be treated effectively with medication. Early diagnosis can help prevent organ damage. However, certain lifestyle changes will be required to manage the symptoms of the disease.

Do not alter the medication on your own. Regular check up and proper dosage of medication are vital to managing the symptoms of the disease. The doctor will aim to reduce the levels of copper build up in the body. Without treatment Wilson’s disease is fatal, so treatment is crucial to prevent life-threatening complications.

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