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Find out more information about Wilson’s disease, its effects, how it’s diagnosed and treatment options.

About Wilson's Disease

Wilson’s disease (WD) is a genetic disease that is characterised by the gradual accumulation of dietary copper over time as affected individuals are unable to effectively transport copper in the body including the removal of excess copper in urine and faeces. Without effective treatment, copper builds up in tissues of the body, including the liver and central nervous system1.

Copper enters our body from the food we eat and although the body needs copper for our cells to work properly, a normal diet contains more copper than the body needs.

In people without Wilson’s disease, the liver processes the necessary amount and excretes the excess copper into bile, which is then removed from the body in faeces1.

About 1 in every 30,000 of the worldwide population have a genetic mutation that affects the important copper transport mechanisms causing Wilson’s disease.

Effects & Treatment

There are many different mutations associated with the development of Wilson’s disease, but all affect a gene on chromosome 131,3 that codes for the ATP7B protein. The ATP7B is responsible for ensuring copper gets safely transported around the body as well as removing excess copper from the body1.

Wilson’s disease is an autosomal recessive genetic disorder which means that, for a person to have Wilson’s disease, they will had to have inherited 2 mutated genes (on each copy of chromosome 13) – 1 from each parent4.

Wilson’s disease can be effectively treated with a low copper diet and medicines that bind to copper and carry it out of the body. In this way copper levels within the body are managed1,5.

1. Roberts EA, Schilsky ML. AASLD Practice Guidelines. Diagnosis and treatment of Wilson’s disease: an update. Hepatology. 2008;47(6):2089-2111.
2. Desai V, Kaler SG. Role of copper in human neurological disorders. Am J Clin Nutr. 2008;88(suppl):855S-858S.
3. Rodriguez-Castro KI, Hevia-Urrutia FJ, Sturniolo GC. Wilson’s disease: a review of what we have learned. World J Hepatol. 2015;7(29):2859-2870.
4. National Institute of Diabetes and Digestive and Kidney Diseases. Wilson’s Disease.VIEW. Accessed May 25, 2016.
5. Wilson’s Disease Association. Treatment of Wilson’s Disease. VIEW. Accessed July 1, 2016.

How do I know if I have Wilson’s disease?

Age of Onset
Usually 5-35 years old (or younger if through screening). Younger individuals may not show any symptoms while older people are more likely to have neurological problems, as well as liver defects.
Signs & Symptoms
The liver is usually affected first but, if Wilson’s disease is not diagnosed and treated, copper may accumulate and damage other organs in the body. Some people will have nervous system problems without obvious symptoms of liver disease.
Blood and urine tests | Eye Exam | Liver Biopsy | Brain scan such as MRI | Genetic testing for ATP7B mutations
Chelating and zinc medications | Dietary changes

Children younger than 2 years of age and adults older than 70 years have been diagnosed with Wilson’s disease (WD), but the disease is usually diagnosed between the ages of 5 and 35 years1. It is becoming increasingly common with improved access to genetic testing to have the diagnosed through genetic screening especially if there is a family history of Wilson’s disease.

Signs & Symptoms

Presentation of Wilson’s disease is different for each person.

It usually affects the liver first but, if it is not diagnosed and treated, the excess copper travels through the bloodstream to other areas of the body, where it can build up and damage the nervous system, eyes, kidneys, bones, heart, and other systems.

The disease can also affect mood and behavior1.

Liver Disease

Some people with Wilson’s disease may be asymptomatic, with only relatively minor biochemical abnormalities1. Other people may have clear evidence of chronic and/or severe liver disease.

Symptoms of liver disease include3:

  • Weakness
  • Fatigue or feeling tired
  • Loss of appetite
  • Nausea
  • Vomiting
  • Itching
  • Weight loss
  • Muscle cramps
  • Pain and bloating from fluid accumulating in the abdomen
  • Edema (swelling), usually in the legs, feet, or ankles and less often in the hands or face
  • Spider-like blood vessels, called spider angiomas near the surface of the skin
  • Jaundice, a condition in which the skin and whites of the eyes turn yellow

Diagnostic tests may reveal1:

  • Consistently high serum aminotransferase activity (aspartate transaminase, alanine transaminase) – these are blood tests that measure the health of your liver
  • Asymptomatic hepatomegaly, in which your liver is larger than normal
  • Isolated splenomegaly, in which your spleen is larger than normal
  • Fatty liver
  • Acute hepatitis, which may give you a fever and jaundice (yellowed skin and eyes)
  • Signs of autoimmune hepatitis
  • Cirrhosis (compensated or decompensated), a serious form of liver damage
  • Acute liver failure

Neurological Disease

A build-up of copper in the nervous system can damage the nervous system’s ability to control muscles and patients can display abnormal involuntary movements. Neurological disease can also cause other problems such as altered beahvior, personality and in children unexpected deterioration in school performance1. Although liver disease usually occurs first in Wilson’s disease, some people will have nervous system problems without clear symptoms of liver disease2.

Neurological symptoms include1,2:

  • Tremors or uncontrolled movements
  • Problems with physical coordination
  • Muscle stiffness
  • Problems with speech
  • Drooling or difficulty swallowing
  • Migraines
  • Trouble Sleeping
  • Seizures

Mental Health Disorders

Altered brain function due to excess copper in the central nervous system can also lead to changes in mood or behavior. Mental health symptoms may include1,2:

  • Personality changes
  • Depression
  • Anxiety or nervous feelings about most things
  • Psychosis, which is when a person loses touch with reality

Other Toxic Effects

A build-up of copper in the body may also result in the following1,2:

  • Kayser-Fleischer rings – rusty brown rings around the edge of the iris (the coloured part of the eye) and in the rim of the cornea. These are almost always present in people with neurological Wilson’s disease symptoms, but only about 40%-66% of people with liver symptoms alone have them
  • Anaemia – the body has fewer or smaller red blood cells than normal, which reduces the amount of oxygen that reaches the body’s cells
  • Arthritis – pain or swelling in 1 or more joints
  • High levels of amino acids, protein, uric acid, and carbohydrates in the urine
  • Low platelet or white blood cell count
  • Osteoporosis – the bones become less dense and are more likely to fracture
  • Sunflower cataracts – sunflower-shaped clouding over the eye’s lens, which does not usually interfere with vision
  • Lunuale cerueae – a blue color appearing at the base of the fingernails
  • Heart problems
  • Pancreas problems
  • Reduced thyroid function
  • Menstrual irregularities (unpredictable periods), infertility, and multiple miscarriages

How is Wilson’s disease diagnosed?

Signs & Symptoms

Wilson’s disease (WD) is fatal if not effectively treated. Once the disease is diagnosed and treated, people with well-managed Wilson’s disease can expect a normal lifespan and, the earlier it is diagnosed, the better3.

Healthcare professionals use a combination of a medical examination and laboratory tests to diagnose Wilson’s disease.

Some signs and symptoms, such as Kayser-Fleischer rings, when they occur with liver and neurological disease, are enough to make the diagnosis, but healthcare professionals will usually need blood tests and possibly a liver biopsy to confirm Wilson’s disease1.

Genetic Testing

Genetic testing for ATP7B mutations is also helpful in diagnosing Wilson’s disease, and is often used to identify family members who might also have Wilson’s disease before any symptoms occur or could be Wilson’s disease carriers (meaning they have a Wilson’s disease mutation on 1 but not both copies of chromosome 13)1.

If you have any of these symptoms or show any of the signs described in the previous section, it is important to see your doctor right away.

Blood and urine tests healthcare professionals might perform include:


Urine tests

To measure urine levels of copper (may also be used to monitor the effectiveness of treatments) over 24 hours; the amount of copper in the urine is often increased in Wilson’s disease.

Blood levels of ceruloplasmin and copper

Ceruloplasmin is the major copper-carrying protein in the blood. Levels are low in 85 to 90% of patients with Wilson’s disease, although other conditions can also cause low levels1. Paradoxically copper in the blood is often reduced in proportion to the lower levels of ceruloplasmin despite the presence of total body copper overload.

Liver enzyme activity

Liver Biochemical tests are performed to look for evidence of active inflammation. These enzymes are usually mildly elevated in people with Wilson’s disease1

Eye exam

To detect Kayser-Fleischer rings, one of the symptoms of Wilson’s disease1

Liver biopsy

To determine the amount of copper in liver tissues; the diagnosis is confirmed if copper levels are > 250 μg/g of liver1

Detect steatosis, or fatty liver1


Brain scans

Such as computed tomography and magnetic resonance imaging to detect brain abnormalities in those with neurological or psychiatric symptoms1

Genetic testing

To detect mutations of the ATP7B gene; more than 500 mutations have been identified1,3

1. Roberts EA, Schilsky ML. AASLD Practice Guidelines. Diagnosis and treatment of Wilson’s disease: an update.Hepatology. 2008;47(6):2089-2111.
2. National Institute of Diabetes and Digestive and Kidney Diseases. Wilson’s disease. VIEW. Accessed May 25, 2016.
3. Rodriguez-Castro KI, Hevia-Urrutia FJ, Sturniolo GC. Wilson’s disease: a review of what we have learned. World J Hepatol. 2015;7(29):2859-2870.

What are my treatment options?

Medications approved for the treatment of Wilson’s disease include chelating agents and zinc. Chelating agents remove copper from the tissues, organs, and the bloodstream by tightly binding to the copper. The copper-chelator complex is then removed from the body via excretion in the urine. Zinc blocks absorption of copper from food in the digestive tract, but it does not help remove excess copper if it has already been absorbed2.

For patients with symptoms, treatment with medications usually occurs in 2 phases:

Phase 1: 2-6 months

Remove copper from the organ(s) where it has built up through use of chelating agents (trientine or penicillamine).

Phase 2: Lifelong

Maintain copper levels within acceptable levels. Chelating agents (trientine or penicillamine) or zinc therapy can be used.

Diet & Nutrition

Copper enters our bodies through the food we eat and the water we drink, which is important because our bodies need copper to function3. However, when you have Wilson’s disease and your body cannot rid itself of excess copper, it is important to limit your copper intake by avoiding foods with a high copper content such as4:

  • Shellfish
  • Nuts
  • Chocolate
  • Mushrooms
  • Organ meat (e.g., liver paté, tripe, sweetbreads)

People with Wilson’s disease should also avoid using copper containers for cooking, serving, or storing food2.

Tap water that runs through copper pipes or comes from a well may contain higher copper levels and water should be run for a while before using, as this should reduce any copper residues to acceptable levels2.

Talk to your doctor before taking a multivitamin and, if they approve, ask your pharmacist to recommend one that does not contain copper5.

If you are a woman with Wilson’s Disease who is pregnant or is planning to become pregnant, you should ask your obstetrician to consult with your Wilson’s disease specialist before prescribing prenatal vitamins5.

You and your doctor should also discuss any other dietary supplements or herbal preparations you are taking, or would like to take, to make sure they will not interact with your medications or worsen problems in your liver5.

Mineral supplements can block absorption of trientine and the two products should not be taken together or preferably avoided. For example, if your doctor prescribes iron supplements for a specific problem, such as anaemia due to low iron, the supplement must be taken separately to a chelating agent such as trientine. It is essential to read the information that is provided with all medicines and to follow your healthcare professional’s advice when it comes to any potential sources of copper or drug interactions that could be harmful to you.

1. Rodriguez-Castro KI, Hevia-Urrutia FJ, Sturniolo GC. Wilson’s disease: a review of what we have learned. World J Hepatol. 2015;7(29):2859-2870.
2. National Institute of Diabetes and Digestive and Kidney Diseases. Wilson’s Disease. VIEW. Accessed May 25, 2016.
3. Desai V, Kaler SG. Role of copper in human neurological disorders. Am J Clin Nutr. 2008;88(suppl):855S-858S.
4. Roberts EA, Schilsky ML. AASLD Practice Guidelines. Diagnosis and treatment of Wilson’s disease: an update. Hepatology. 2008;47(6):2089-2111.
5. Wilson’s Disease Association. Diet and nutrition. VIEW. Accessed July 1, 2016.
6. Cuprior SmPC July 2020.

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