Wilson’s Disease: Causes, Symptoms, Diagnosis, Treatment, Complications, Prevention and Prediction

It is a genetic disorder that is fatal unless detected and treated before a serious illness develops from copper poisoning.

Wilson’s disease is a genetic defect that causes an excessive accumulation of copper in the liver or brain.

Copper is present in most foods, and most people have much more copper than they need, excreting what they do not need, except for patients with Wilson’s disease.

In these patients, copper accumulates from birth.

This excess copper accumulates in the liver or brain, causing symptoms similar to hepatitis and psychiatric or neurological problems.

Usually, the liver sends excess body copper into the bile, the digestive juice that the liver makes.

Wilson’s disease prevents your liver from functioning normally.


Instead of getting rid of the mineral, start storing it.

Eventually, the buildup is more than the liver can hold, and the excess copper enters the bloodstream and accumulates in other organs, including the eyes and brain.

Although this accumulation of copper starts at birth, it can be years or even decades before the symptoms appear.


Wilson’s disease is a genetic or hereditary condition.

A mutation, or defect, in the ATP7B gene, prevents the body from adequately eliminating additional copper in the body.

Copper, consumed daily in the diet, is one of the many minerals that the body needs in small quantities; if this copper is not eliminated, it accumulates, becoming toxic.

To inherit this ATP7B gene mutation, both parents must possess the gene for Wilson’s disease.

If only one parent has it, the gene can be inherited but never develop the disease.

The gene can skip a generation, so look beyond the parents or perform a genetic test.


The symptoms of Wilson’s disease depend on the organs involved.

The oxidized brown rings around the iris of your eye, called Kayser-Fleischer rings, are the most significant symptom.

The accumulation of copper causes these rings, which affect approximately half of people with Wilson’s disease.

Wilson’s disease can attack the central nervous system and the liver.

As a result, a collection of apparently unrelated symptoms may occur.

Liver symptoms appear in late childhood or adolescence, while neurological symptoms appear in adulthood.

Liver symptoms include:

  • Presence of fatigue.
  • Distention of the belly.
  • Bruising easily.
  • The liver and spleen are swollen.

Neurological symptoms include:

  • Changes in behavior
  • Rigid muscles
  • Tremors or movements that you can not control.
  • Slow or repetitive movements.
  • Loss of muscle tone.
  • Difficulty to swallow.
  • Impaired speech.
  • Ataxia.
  • Babe.
  • Decrease in fine motor skills.
  • Psychological changes, such as psychosis, neurosis, or suicidal thoughts.

Other diverse symptoms that you may experience are:

  • Early changes in bone density or joints.
  • Abnormal levels of amino acids, proteins, carbohydrates, and uric acid in the urine.
  • Anemia.
  • Platelet or white blood cell levels are lower than usual.


Wilson’s disease can be difficult to diagnose initially.

The symptoms are similar to other health problems such as heavy metal poisoning, hepatitis C and cerebral palsy.

Sometimes Wilson’s disease can be ruled out once neurological symptoms occur and there is no visible Kayser-Fleischer ring.

However, this is not always the case for people with specific symptoms of the liver or without other symptoms.

Various tests are usually used to detect the damage caused by copper accumulations.

Physical exam:

  • Check the abdomen.
  • Review the eyes in bright light to detect Kayser-Fleischer rings and sunflower cataracts.
  • Motor skills tests and memory skills.

Lab tests:

Blood tests will be performed in the laboratory to verify:

  • Abnormalities in their liver enzymes.
  • Levels of copper in the blood.
  • Lower levels of ceruloplasmin, a protein that transports copper through the blood.
  • A genetic test to verify if there is a mutation of the ATP7B gene.
  • Low blood sugar levels
  • Urine test for 24 hours to look for copper accumulation.

Image tests:

Magnetic resonance imaging and computed tomography can help show any brain abnormalities, especially if you have neurological symptoms.

These findings can not diagnose the condition, but they can help determine a differential diagnosis or how advanced it is.

Look for weak brain stem signals and damage to the brain and liver.

Liver biopsy:

A liver biopsy may be suggested to look for signs of damage and high levels of copper.

A local anesthetic will be applied before inserting a needle to take a tissue sample.

Sedatives and analgesics may be given, and you should lie on your side for two to four hours.

If the doctor detects the presence of Wilson’s disease, a genetic test may also be recommended for the entire generation. This can help identify if the other family members have or are at risk of transmitting Wilson’s disease.

Future screening for newborns should be considered if the patient is pregnant and has Wilson’s disease.


The successful treatment of Wilson’s disease depends on the time the treatment is started rather than the medication.

Treatment often occurs in three stages and must last a lifetime.

If the patient stops taking the medication, the copper can accumulate again.

First stage:

The first treatment is to remove excess copper from your body through chelation therapy.

Chelating agents include medications such as d-penicillamine and trientine or Syprine.

These medications will remove the extra copper from your organs and release it into the bloodstream.

The kidneys will then filter the copper in the urine.

Trientine has fewer reported side effects than d-penicillamine.

Possible side effects of d-penicillamine include:

  • Fever.
  • Eruption.
  • Renal problems.
  • Bone marrow problems

Lower chelating drugs should be given if the patient is pregnant, as they can cause congenital disabilities.

Second stage:

The objective of the second stage is to maintain normal copper levels after elimination.

The doctor will prescribe zinc or tetrathiomolybdate if you have finished the first treatment or have no symptoms but have Wilson’s disease.

Zinc taken orally in the form of salts or acetate (Galzin) prevents the body from absorbing copper from food.

Zinc may cause a slightly upset stomach.

Children with Wilson’s disease but no symptoms are given zinc to keep the condition from worsening or slowing down.

Third stage:

The therapy focuses on long-term maintenance after the symptoms improve and their copper levels are normal.

This includes continuing zinc or chelation therapy and monitoring the patient’s copper levels regularly.

You can also administer copper levels, avoiding foods with high levels, such as:

  • Dry fruits.
  • Liver.
  • Mushrooms.
  • Nuts
  • Seafood.
  • Chocolate.
  • Multivitamínicos.

Copper levels should also be checked in tap water if the house has copper pipes.

Medications can take four to six months to work on a patient experiencing symptoms.

If a person does not respond to these treatments, they may require a liver transplant.

A successful liver transplant can cure Wilson’s disease.

The success rate of liver transplants is 85 percent after one year.


Wilson’s disease can cause various problems related to the liver, which include liver damage, hepatitis, cirrhosis, and liver failure.

You may have difficulty functioning due to neurological symptoms.

Brain damage is a possibility, and the disease can be fatal.

Complications include:

  • Liver cirrhosis: These scars occur as the liver cells repair the damage caused by excess copper, causing difficulties in the functioning of the liver.
  • Hepatic insufficiency: This disease develops suddenly or with the passage of years of suffering from this condition. A treatment option could be a liver transplant.
  • Persistent neurological problems: Patients usually improve symptoms such as tremors, involuntary movements of muscles, difficulty walking, and speech difficulties with the treatment of Wilson’s disease.
  • Kidney problems: Wilson’s disease can cause damage to the kidneys and cause problems such as abnormal levels of amino acids excreted in the urine and stones in the urine.
  • Psychological problems: These complications can cause changes in the personality, depressive states, periods of irritability, and bipolar disorders, among others.
  • Blood problems:  This condition can destroy red blood cells or hemolysis that lead to anemia or jaundice.


Wilson’s disease has no cure.

However, with genetic counseling, you may be able to determine if your current or future children are at risk of developing it.

Genetic testing may be recommended if there is a strong family or personal history of the condition.

Siblings of a patient with Wilson’s disease should be evaluated, as should more distant relatives with neurological or hepatic symptoms that may be related to Wilson’s disease.

Although it can not prevent Wilson’s disease, it can delay or slow its onset.

If you discover that you have Wilson’s disease from the beginning, you may be able to prevent the symptoms from manifesting with proper treatment.

A geneticist can help parents determine their potential risk of transmitting Wilson’s disease to their children.


Lifetime treatment is necessary and could include:

  • Use copper chelating drugs, which help the organs and tissues of your body to eliminate excess copper.
  • Reduce the amount of copper that is received through food.
  • Take zinc supplements. Zinc prevents the body from absorbing copper from the diet.
  • Administer additional vitamin B6.
  • Treatment of any damage to the liver or central nervous system.
  • Medications to treat some symptoms, such as muscle problems (tremors, stiffness)
  • Liver transplant if you have extensive liver damage. This procedure has a survival rate of 80 percent.

The doctor can suggest medications to help keep copper under control.

Dietary changes may also be needed to help reduce your copper intake, which includes:

  • Avoid seafood.
  • Avoid the liver
  • Limit or avoid nuts.
  • Limit or avoid chocolate.
  • Avoid multivitamins that contain copper.
  • You should check the amount of copper in your drinking water or look for a source of copper-free water.

Regular follow-up visits and lab tests should be done to ensure your copper levels are controlled.

If you want to become pregnant or are pregnant, you should inform the doctor, and the doses of the medicines should be modified to ensure a healthy pregnancy.

To keep the liver healthy, precautions should be taken to be vaccinated against hepatitis A and B.

Symptoms usually appear at the end of adolescence.

Patients may present symptoms such as jaundice, abdominal swelling, vomiting of blood, and abdominal pain.

They may have tremors and difficulties walking, talking, and swallowing.

All levels of a mental illness can develop, including homicidal or suicidal behavior, depression, and aggression.

Women may have menstrual irregularities, absent periods, infertility, or multiple abortions.

This disease can be fatal if it is not diagnosed and treated early.

The first affected organ of the body by copper is the liver.

In about fifty percent of patients suffering from Wilson’s disease, the liver is the only affected organ.

The physical changes that occur in the liver initially are only visible with the help of the microscope.

When hepatitis develops, it is often thought that patients have infectious hepatitis or mononucleosis when they have a liver condition caused by Wilson’s disease.