Wilson's Disease

Wilson's Disease

Wilson's disease is an inherited disorder that causes damage to the liver and brain. This damage occurs due to the accumulation of copper in the body. Wilson's disease affects 1 in 50,000 people worldwide.

Copper is a mineral that plays a role in bone growth, helps form blood cells, supports blood vessel performance, and strengthens the immune system. This mineral can be obtained from foods such as shellfish, nuts, green vegetables, potatoes, and beef liver.

The body generally absorbs adequate amounts of copper. If the absorption of excess copper, the body will excrete it through feces and urine. However, in people with Wilson's disease , excess copper cannot be excreted from the body. As a result, there is a buildup of copper which can be life-threatening.

Causes of Wilson's Disease

Wilson's disease or Wilson's disease occurs due to abnormalities in the ATP7B gene which functions to regulate excess copper from the liver to the bile to be excreted through urine and feces.

Wilson's disease is inherited directly from parents with the same disease. A child whose parents have a history of Wilson's disease has about a 50% risk of developing the disease.

Meanwhile, children where one of their parents has a history of Wilson's disease only have the potential to pass this disease on to their offspring in the future, but do not suffer from the same disease.

Symptoms of Wilson's Disease

Symptoms of Wilson's disease often first appear by the age of 6 years. In some cases, the symptoms of Wilson's disease appear during the teens or early 20s.

The following are some of the symptoms that usually appear in people with Wilson's disease :

Brain disorders

Brain disorders in people with Wilson's disease can cause physical and psychological symptoms, including:

  • Headache
  • Muscle pain, especially when moving
  • Stiff muscles
  • Abnormal gait
  • Frequent drooling or drooling
  • Impaired memory, speech, and vision
  • Insomnia
  • seizures
  • Mood disturbances
  • Depression

Liver disfunction

Disorders of liver function that are commonly experienced by people with Wilson's disease are:

  • Weak
  • Nausea and vomiting
  • Loss of appetite
  • Bloated
  • Stomach ache
  • Jaundice
  • Swollen belly or legs
  • Liver failure

In addition to the above disorders, Wilson's disease can also cause a buildup of copper in the eye. This condition causes the appearance of symptoms in the form of cataracts that are shaped like sunflowers ( sunflower cataract ).

Copper buildup in the eye also makes the cornea of ​​the eye which should be clear be surrounded by a golden brown color ( Kayser-Felischer ring ).

When to see a doctor

Immediately check with your doctor if you or your child has the above symptoms, especially if you have a family history of Wilson's disease . Early examination can prevent the appearance of severe symptoms.

Diagnosis of  Wilson's Disease

The doctor will conduct questions and answers regarding symptoms, as well as the patient's and family's medical history. After that, the doctor will carry out a physical examination and eye examination. Furthermore, the doctor will recommend further examinations, such as:

  • Blood tests , to check copper levels in the blood, assess liver function , and detect gene changes
  • Urine test , to check the level of copper in the urine obtained from the patient's urine sample for 24 hours
  • Liver biopsy, to check for abnormalities that occur in the liver by examining liver tissue samples
  • MRI and CT scans , to check for brain conditions associated with nerve disorders
  • Genetic test , to identify the gene mutation that causes Wilson's disease

Treatment of  Wilson's Disease

Treatment of Wilson's disease needs to be done for life, because this disease cannot be completely cured. Treatment methods can be by administering drugs or surgery. Here is the explanation:


Administration of drugs aims to excrete excess copper in the body through urine. These drugs are recommended to be taken for 4–6 months.

Types of drugs that can be prescribed by a doctor include:

  • Penicillamine
  • Trientine
  • Zinc acetate


If the patient's liver damage is severe, the doctor will suggest a liver transplant procedure . This procedure is performed by replacing the patient's damaged liver with a healthy liver from a donor.

In addition to undergoing medical treatment, patients will be advised to adopt a low-copper diet. Patients are also advised not to eat beef liver, nuts, shellfish, chocolate and mushrooms.

Wilson's disease complications

If left without proper treatment, Wilson's disease can cause several serious complications, namely:

  • Permanent nervous breakdown
  • Hemolytic anemia
  • Jaundice
  • Cirrhosis
  • Kidney stones and kidney failure
  • Mental disorders, such as psychosis , bipolar disorder, and depression

Prevention of Wilson's Disease

Wilson's disease cannot be prevented. However, people with Wilson's disease can reduce their risk of developing symptoms of copper buildup by limiting their intake of copper from food and supplements.

Patients with this disease are also advised to routinely see a doctor to undergo treatment and prevent organ damage.

Back to blog