Symptoms & Diagnosis


Wilson’s disease leads to a wide spectrum of clinical manifestations. These signs and symptoms usually occur between the ages of 5 and 40, although some people develop symptoms earlier or later in life.3
Symptoms tend to be classed as either hepatic (affecting the liver) or neurological (affecting the nervous system). Hepatic symptoms are the first signs of Wilson’s disease in around 40% of patients.1,3
Symptoms can develop very quickly and lead to complete disability within a few months.4
Unless treated, continued copper accumulation can lead to serious health issues and even death from progressive liver failure or from complications of severe neurological disability.1,4

How Do I Know if I Have Wilson’s Disease?

Age of Onset
Usually 5-40 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.1-3
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. Some of the more frequent symptoms are weakness, fatigue, itching, muscle cramps, tremors or uncontrolled movements and muscle stiffness. Please see below for complete information on signs and symptoms.1
In order to confirm the diagnosis of Wilson’s disease, your doctor may carry out a series of tests. These include blood and urine tests, eye examination, liver biopsy, brain scans (CT and MRI), and genetic testing for ATP7B mutations.1

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 years.1 It is becoming increasingly common to be diagnosed through genetic screening, if there is a family history of Wilson’s disease.

Clinical Features of Wilson's Disease

Clinical features in Wilson’s disease include several key indicators highlighted below:1 


Scarring of the liver (cirrhosis) which does not allow the normal functioning of the liver. Liver failure can occur slowly over the years or even as a sudden event.


Movement disorders can occur such as tremors, speech difficulties, migraine headaches, insomnia and even seizures.


Psychiatric manifestations can affect patients with Wilson’s Disease. These might include depression and personality changes.


The kidneys could be affected (such as kidney stones) and skeletal abnormalities (such as arthritis) could also occur. In the eyes, Kayser-Fleishcer rings* or sunflower cataracts can be observed.
* Kayser-Fleischer rings are the brownish coloration (copper deposits) of the outer margin of the cornea in the Descemet’s membrane. It is part of the diagnosis of Wilson’s disease. The sunflower or “sunburst” cataracts are due to copper deposition in the lens.

Signs & Symptoms

Presentation of Wilson’s disease is different for each person. It usually affects the liver first, but if it’s 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 behavior.1
Liver Disease
Neurological Disease
Other Toxic Effects

Some people with Wilson’s disease might not have any symptoms whilst others may have chronic and/or severe liver disease.1,4

Symptoms of Liver Disease Include:3,4
Fatigue or feeling tired
Loss of appetite
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 Reveal:1,4
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
Jaundice, a condition in which the skin and whites of the eyes turn yellow

A build-up of copper in the nervous system can damage the nervous system’s ability to control muscles and people with Wilson’s disease can display abnormal involuntary movements. Neurological disease can also cause other problems such as altered behaviour, personality changes, and in children unexpected deterioration in school performance. Although liver disease usually occurs first in Wilson’s disease, some people will have nervous system problems without clear symptoms of liver disease.1

Neurological Symptoms Include:1
Tremors or uncontrolled movements
Problems with physical coordination
Muscle stiffness
Problems with speech
Drooling or difficulty swallowing
Trouble sleeping
Mental Health Disorders:1

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 include:

Personality changes
Anxiety or nervous feelings about most things
Psychosis, which is when a person loses touch with reality
A build-up of copper in the body may also result in the following:1,4
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
Other 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
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
Pancreas problems
Reduced thyroid function
Menstrual irregularities (unpredictable periods), infertility, and multiple miscarriages

How is Wilson’s Disease Diagnosed?

Wilson’s disease is fatal if not effectively treated, however, with early diagnosis and compliance to treatment, prognosis is excellent and people with the disease can expect to live a normal lifespan.5
Healthcare professionals use a combination of a medical examination and laboratory tests to diagnose Wilson’s disease.1
Some signs and symptoms, such as when Kayser-Fleischer rings occur with liver and neurological disease, are enough to make the diagnosis, but healthcare professionals will usually need to use a combination of medical examination and laboratory tests, such as blood tests and liver biopsies.1
Genetic testing for ATP7B mutations is also helpful in diagnosing Wilson’s disease. It is often used to identify family members who may also have Wilson’s disease before any symptoms occur, or carriers of the disease (individuals who have a Wilson’s disease mutation on one, 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.

Diagnosis of Wilson's Disease

As with many diseases, early diagnosis is important. A combination of symptoms and tests help doctors diagnose Wilson’s disease.1
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.1
Blood Levels of Ceruloplasmin and Copper
Ceruloplasmin is the major copper-carrying protein in the blood. Ceruloplasmin levels are often low in people with Wilson’s disease and it is one of the commonly performed tests when doctors are screening and looking to confirm the presence of the disease.1
Liver Enzyme Activity
Liver biochemical tests are performed to look for evidence of active inflammation. Enzyme activity is usually mildly elevated in people with Wilson’s disease.1
Eye Examination
To detect Kayser-Fleischer rings, one of the symptoms of Wilson’s disease.1
Liver Biopsy
To determine the amount of copper in liver tissues; the diagnosis is confirmed if copper levels are > 250 μg/g of liver (μg/g = one millionth of gram of copper for each gram of liver tissue).1
Detect Steatosis (Fatty Liver)
Diagnosis is based on the medical history supported by blood tests, medical imaging, and occasionally liver biopsy.1
Brain Scans
Such as computed tomography (CT) and magnetic resonance imaging (MRI) to detect brain abnormalities in those with neurological or psychiatric symptoms.1
Genetic Testing
To detect mutations of the ATP7B gene; more than 500 mutations have been identified.1
Once the diagnosis is made, lifelong treatment and monitoring is necessary to make sure that symptoms and copper balance are controlled.1

Learn More About the 
Treatment of Wilson’s Disease

A number of drugs are available for the treatment of Wilson’s disease, including the chelating agents D-Penicillamine and trientine. Treatment must be lifelong and monitoring is necessary to make sure that symptoms and copper balance are controlled.1,3