Wilson’s disease, also known as Hepatolenticular Degeneration Syndrome or Copper Storage Disease, is a rare genetic disorder characterized by the accumulation of copper in various organs of the body, particularly the liver and brain. The liver normally releases excess copper into the bile, which is then eliminated through the digestive system. In individuals with Wilson’s disease, copper is not properly excreted, leading to its accumulation and subsequent damage to vital organs.

Who does Wilson’s Disease Affect?

Wilson’s disease can affect both males and females of all ethnic backgrounds. It usually manifests between the ages of 5 and 35, with the majority of cases diagnosed during adolescence or early adulthood. However, it can occur at any age, from infancy to late adulthood.

How Does Wilson’s Disease Affect the Body?

In Wilson’s disease, the liver’s ability to process and eliminate excess copper is impaired. The accumulated copper gradually builds up and gets released into the bloodstream, affecting various organs throughout the body, including the liver, brain, kidneys, and cornea. The excessive copper causes oxidative damage, leading to inflammation, scarring, and dysfunction of these organs.

Symptoms

The symptoms of Wilson’s disease can vary widely, and the severity of the disease can range from mild to life-threatening. The most common symptoms include:

1. Hepatic Symptoms

• Fatigue and weakness
• Abdominal pain and swelling
• Jaundice (yellowing of the skin and eyes)
• Easy bruising and bleeding
• Fluid retention (edema)

2 . Neurological Symptoms

• Tremors or involuntary movements
• Difficulty speaking or swallowing
• Personality changes or mood swings
• Anxiety, depression, or psychosis
• Difficulty with coordination and balance
• Slurred speech
• Rigidity or stiffness

3. Ocular Symptoms

• Kayser-Fleischer rings: A brownish ring around the cornea caused by copper deposition.
• Eye abnormalities: Eye movement abnormalities, decreased vision, or light sensitivity.

Causes

Wilson’s disease is caused by mutations in the ATP7B gene, which is responsible for producing a protein that helps transport copper in the body. The defective ATP7B gene impairs the liver’s ability to release copper into the bile, resulting in its accumulation. Wilson’s disease is an autosomal recessive disorder, meaning an affected individual must inherit two copies of the mutated gene, one from each parent.

Risk Factors 

If your parents or siblings have the condition, you are at a greater risk of having Wilson’s disease. Your doctor may have you do genetic testing to find out if you have Wilson’s disease. Diagnosing the condition as early as possible greatly increases the chances of successful treatment.

Complications

If Wilson’s disease is not treated, it can sometimes lead to death. Serious complications include:

• Scarring of the liver, also known as cirrhosis – When the liver cells try to repair damage due to high copper levels, scar tissue forms in the liver, which makes it harder for the liver to work.
• Liver failure – This can occur suddenly, which is known as acute liver failure or decompensated Wilson’s disease. It can also come about slowly over the years. A liver transplant might be a treatment option.
• Lasting nervous system issues – Symptoms such as tremors, involuntary muscle movements, clumsy walking, and having a hard time speaking usually improve with treatment. However, even with treatment, some people have lasting nervous system problems.
• Kidney problems – Wilson’s disease can damage the kidneys. This can lead to issues such as kidney stones and an unusual number of amino acids removed in the urine.
• Mental health issues – Patients may have personality changes, depression, irritability, bipolar disorder or psychosis.
• Blood problems – These might include the destruction of red blood cells; known as hemolysis. This leads to anaemia and jaundice.

Inheritance of Wilson’s Disease

Wilson’s disease is inherited in an autosomal recessive manner. This means that an individual must inherit two copies of the mutated ATP7B gene, one from each parent, to develop the disease. If both parents carry one copy of the mutated gene, each of their children will have a 25% chance of inheriting two copies and developing Wilson’s disease.

Diagnosis

Diagnosing Wilson’s disease requires a combination of clinical evaluation, medical history assessment, and specialized laboratory tests. The following tests are commonly used for diagnosis:

1. Blood and Urine Tests

• Copper and ceruloplasmin levels: Elevated copper levels and decreased ceruloplasmin levels indicate Wilson’s disease.
• Liver function tests: Abnormal liver enzymes may be indicative of liver damage.

2. Genetic Testing

• DNA analysis to identify mutations in the ATP7B gene.

3. Imaging

• Abdominal ultrasound or MRI to assess liver and spleen abnormalities.

Treatment

The treatment of Wilson’s disease aims to reduce copper levels in the body and prevent further copper accumulation. It typically involves two main approaches

1. Dietary Modifications

Your doctor might suggest that you take medicine to help keep your copper level under control. You will need to change your diet to help reduce your copper intake. 

These dietary changes include:

• Not eating shellfish and liver
• Limiting or avoiding mushrooms, nuts, dried fruits, chocolate, and multivitamins that have copper 

You must have regular follow-up visits and lab tests to make sure your copper levels are under control. You doctor may recommend getting vaccines for hepatitis A and B.

2. Copper-Chelating Medications

• Medications that bind to copper and enhance its elimination from the body.
• Prescribed based on the individual’s symptoms, age, and overall health.

How soon after treatment will I feel better? 

It could take several months, roughly 6 to 18 months, after starting treatment for Wilson’s disease to see noticeable improvements in symptoms and feel better. This is because chelating agents (a common treatment,) take time to reduce copper levels to a safe threshold. Lifelong maintenance therapy is then needed to prevent reaccumulation.  

Side Effects or Complications that Arise from Wilson’s Disease Treatment

Wilson’s disease treatment can lead to various side effects and complications, particularly with chelating agents like penicillamine and trientine, and zinc acetate. These can include bone marrow suppression, kidney problems, gastrointestinal issues, and worsening of neurological symptoms. Additionally, Wilson’s disease itself can cause complications like liver damage, cirrhosis, and neurological problems, even with treatment. 

Prevention

There is no way to prevent Wilson disease. Genetic counselling may help you find out if your current or future children are at risk for the disorder. When someone has Wilson disease, their brothers or sisters should also be tested. 

Self-Care Practices

Individuals with Wilson’s disease can take certain steps to manage their condition and promote overall well-being. These include:

• Adhering to prescribed medications and dietary guidelines.
• Regularly monitoring copper levels and liver function.
• Engaging in regular physical activity, with the advice of healthcare professionals.
• Seeking support from support groups or counseling to cope with the emotional aspects of the disease.

When and Who to Consult?

If you experience symptoms such as unexplained fatigue, jaundice, tremors, or changes in behavior, it is crucial to consult a healthcare professional. Medical experts specializing in hepatology or genetics can provide a proper diagnosis, treatment, and ongoing management of Wilson’s disease.

What questions should I ask my doctor?

1. Will I need a liver transplant?
2. What are the side effects of the medicine you prescribed to treat Wilson’s disease?
3. If I become pregnant, will my child have Wilson’s disease?
4. Can I take my medicine if I get pregnant?
5. How long should I take the medicine you prescribed?

Frequently Asked Questions