Wilson’s Disease: Symptoms, Causes, Diagnosis and Treatment

Wilson’s disease is a rare, inherited disorder of copper metabolism. It is caused by a defect in the Wilson disease protein (ATP7B) that transports copper from the liver to the rest of the body. The defect results in too much copper accumulating in organs and tissues outside of the liver, such as the brain, eyes, kidneys and pancreas.

In Wilson’s disease, the body cannot process copper properly. The liver excretes excess copper into bile and into the intestines where it is eventually eliminated from the body in stool. However, if too much copper accumulates in the body over time because of insufficient excretion from either route (biliary or intestinal), it can cause permanent damage to many organs including brain and liver.

This leads to symptoms such as lack of energy, confusion, difficulty walking or speaking, tremor of the hands or feet and the excess copper is excreted in urine, leading to a characteristic blue or green coloration.


The symptoms of Wilson’s disease vary greatly among affected individuals. Some people have no symptoms at all while others will experience a wide range of problems including:

  • Liver damage that can lead to cirrhosis or liver failure
  • Damage to other organs such as brain, eyes, kidneys and pancreas
  • Developmental delays or intellectual disabilities
  • Movement disorders including tremors and difficulty walking or holding objects
  • Muscle rigidity, weakness, pain and stiffness
  • Arthritis, joint problems and infections of the joints
  • Hallucinations or delirium

Other symptoms of Wilson’s disease are:

Symptoms are usually first noticed in the teenage years or young adult years. Symptoms usually worsen by middle age.

Causes and Types

Wilson’s disease is a rare genetic disorder in which copper accumulates in the liver and brain. Inheritance of the gene from one parent is enough to cause the disease, but it can also be acquired from a new mutation.

  • The condition is caused by a defect in the body’s ability to metabolize copper.
  • A defect in the ATP7B gene causes Wilson’s disease.
  • It can also be caused by mutations on chromosome 13
  • Other causes are a defect in copper metabolism or exposure to heavy metals like lead or mercury.

There are three main types of Wilson’s Disease: classic, juvenile, and hepatolenticular.

  1. Classic: This type of Wilson’s disease occurs when a person inherits two copies of the defective ATP7B gene, one from each parent. Symptoms include liver damage and neurological problems such as tremors or difficulty speaking or walking.
  2. Juvenile: The juvenile type of Wilson’s disease affects children and adolescents. It include developmental delays and movement disorders like dystonia or chorea.
  3. Hepatolenticular: It affects the brain and central nervous system. They are less common and include cirrhosis of the liver, dementia, and psychiatric problems like depression or schizophrenia.

Risk Factors

Wilson’s disease is an autosomal recessive disorder that causes abnormal copper accumulation in the body. It is caused by mutations in the ATP7B gene that encodes a protein responsible for transporting copper within cells.

The risk factors of Wilson’s disease are:

  • Family history of Wilson’s disease
  • Liver cirrhosis
  • Alcoholism
  • Copper deficiency
  • Neurotoxins
  • Hepatic encephalopathy
  • Metals


The diagnosis of Wilson’s Disease is usually based on the standard blood tests that are used in a regular blood test. Sometimes an ultrasound or MRI scan might be done to look for evidence of Wilson’s Disease.

Blood tests:

Blood tests for Wilson’s disease are done to check if a person has Wilson’s disease. The test can indicate the level of copper in a person’s blood. If the level is high, it may be a sign that they have Wilson’s disease.

The following blood tests are typically used to diagnose Wilson’s Disease:

  • Serum ceruloplasmin
  • 24-hour urinary copper excretion test (24-hour UEC)
  • Erythrocyte superoxide dismutase activity (ESOD)
  • Zinc protoporphyrin (ZPP)

A blood test can determine if you have Wilson’s disease, but it may not be accurate for everyone.

Imaging Scans:

An imaging scan is a type of medical test that uses a device to produce images of the inside of the body. Imaging scans are often used to diagnose diseases or conditions.

Ultrasound: Ultrasound for Wilson’s disease is used to identify liver enlargement, which can be a symptom of this disorder. If the ultrasound scan shows that there is no enlargement, then it can be ruled out as a cause for the symptoms.

MRI: A MRI scan is a medical imaging technique which uses electromagnetic waves to produce images of the inside of the human body. It can be used to diagnose and monitor Wilson’s disease.

X-rays: X-ray that is used to diagnose Wilson’s disease. This condition can lead to liver, kidney and neurological problems as well as changes in mental function. These X-rays can be used in conjunction with other tests like blood tests and biopsies.


A biopsy of the liver is done to diagnose Wilson’s disease. The patient has to fast for 12 hours before the procedure. A needle is inserted into the liver through a small incision in the abdomen and a small sample of liver tissue is taken by using suction and cutting instruments. The sample is then examined under a microscope for signs of Wilson’s disease.


The treatment of Wilson’s disease is focused primarily on managing the symptoms, rather than curing the disease, since there is no cure. The prognosis depends on the severity of the disease. Treatment may include some or all of the following:

Drugs and Medication:

  • Sulfa drugs, such as trimethoprim-sulfamethoxazole or sulfasalazine, may be useful in managing the symptoms.
  • Bisulfate drugs may be used to prevent kidney damage.
  • Dantrolene is an antiarrhythmic drug that has been shown to have some benefit in treating Wilson’s disease. Its use is restricted because of its potential for fatal cardiac arrhythmias.
  • Beta blockers are also sometimes prescribed, but their use is restricted as they can lead to a fatal cardiac arrhythmia.

These drugs decrease how much copper is absorbed. They may also be used to prevent and treat disease. However, they can be toxic and cause damage to the liver, kidneys and stomach.


The only known treatment for Wilson’s disease is surgery. The surgery removes the part of the liver that is diseased and replaces it with a healthy piece of tissue from another part of the body.

Surgery for Wilson’s disease can be highly successful in treating this condition if it’s caught early enough and if all other treatments have failed.


The disease is caused by a buildup of copper in these organs. Copper accumulates in the liver and is excreted into the bile, which then goes to the intestines.

A diet for Wilson’s disease includes:

  • Low copper foods
  • Low protein foods
  • High fiber foods
  • Low fat foods


Patients with Wilson’s disease should avoid heavy metal exposure. They should also avoid drinking coffee and alcohol, as these substances can worsen the symptoms. If a patient is experiencing liver or kidney problems, they should consult their doctor about taking medication to improve those functions.

Wilson’s disease patients need to be careful about what they eat too. Their diet should include foods low in copper such as vegetables, fruits and legumes. They also need to drink lots of fluids to flush out any copper from their body.


Complications of Wilson’s disease can range from mild to life-threatening and may depend on how much copper builds up in the body and where it accumulates.

People with Wilson’s disease are at risk of developing liver problems, neurological problems and other serious complications.


Wilson’s disease is a genetical disorder, and this accumulation impairs the function of these organs and can lead to serious physical and mental problems.

Some people experience no symptoms at all, while others can have severe complications such as liver failure or brain damage.

Wilson’s disease is rare, but it does not mean you should ignore symptoms. A person who has Wilson’s disease should see a doctor if they experience any of the above symptoms.