Wilson’s disease – causes, symptoms, diagnosis, treatment, complications

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Wilson’s disease is a rare autosomal recessive disorder of copper metabolism characterized by excessive deposition of copper in the liver, brain and other tissues. Wilson’s disease is often fatal if left undiagnosed and treated when symptoms appear. Below you will find all the information regarding Wilson’s disease.

Wilson’s disease – characteristics

Another name for Wilson’s disease is lento-hepatic degeneration. It is an autosomal recessive genetic disease. In people with the disease, the ATP7B gene mutates. Wilson’s disease causes liver damage that can be slowly progressive or acute and very severe.

It can also cause damage to the brain and nervous system, which can lead to mental and neuromuscular symptoms. Wilson’s disease can be fatal, but often responds very quickly to treatment, especially if diagnosed before serious disease develops.

Copper is a trace mineral that our body needs in small amounts. Most people get much more copper from their food than they need. However, most of us are able to get rid of the excess copper in our bodies.

People with Wilson’s disease cannot excrete excess copper due to a defective copper transporting protein. The liver of a person with Wilson’s disease does not release copper into the bile as it should. As a result, copper begins to build up in the liver shortly after birth and eventually damages the liver. When the liver is unable to hold onto the excess copper, the mineral finds its way into the bloodstream.

Wilson’s disease affects one person in 30-100 thousand. births. If a child inherits the defective gene from one of the parents, the condition usually does not show up, but the child carries it. He will pass it on to his children in the future. And when the defective gene is inherited from the mother and father, the disease may develop. This usually happens between the ages of 6 and 20.

Wilson’s disease – causes and mechanism of the disease

The ATP7B gene is involved in copper metabolism. The gene defect causes that excess copper absorbed from the gastrointestinal tract is not excreted by the liver, but accumulates in its cells. The toxic effect of metal leads to various forms of organ damage, as confirmed by liver biopsy.

Over time, the liver cells lose their ability to store copper and it is released into the blood. The metal in the blood damages the central nervous system and kidneys. Copper deposits also build up in the cornea of ​​the eyes, resulting in an orange border around the cornea. This border is technically called the Kayser-Fleischer ring. Confirming the presence of the ring is one of the diagnostic procedures.

Excess copper in the body damages the central nervous system because it destroys its structures. When the metal enters the blood, the metabolic disturbances of the blood cells can lead to haemolytic crises, i.e. the sudden breakdown of large numbers of red blood cells.

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Wilson’s disease – symptoms

Wilson’s disease is a rare genetic disorder that begins with liver dysfunction, where damage begins at an early age but usually manifests clinically in the teens or early twenties.

Common symptoms of accompanying liver disease include:

1. yellow discoloration (jaundice) of the skin, mucous membranes and membranes that line the eye
2. swelling of the legs and abdomen due to abnormal fluid retention
3. damaged blood vessels in the esophagus that can bleed (esophageal varices)
4. prone to bruising and prolonged bleeding,
5. excessive fatigue.

Some people with Wilson’s disease may only have liver function tests abnormalities and may not show any other symptoms for many years.

Some of those affected may experience severe liver failure. It happens most often in people struggling with Wilson’s disease in adolescence and more often in women. They may develop liver disease symptoms often associated with anemia due to breakdown of red blood cells (haemolysis) fairly quickly. In these individuals, the characteristic rusty brown deposits in the cornea of ​​the eyes (Kayser-Fleischer rings) may not yet be visible.

Some people who do not have liver symptoms may develop neurological (brain related) symptoms. Common neurological symptoms of Wilson’s disease that may appear and progress over time include body tremors, involuntary movements, difficulty swallowing (dysphagia), difficulty speaking, poor articulation (dysarthria), incoordination, spasticity, dystonic postures, and muscle stiffness. Kayser-Fleischer rings in the cornea of ​​the eyes are found in almost all people affected by the neurological symptoms of Wilson’s disease.

1. Diseases of the blood vessels of the retina

The psychiatric symptoms of Wilson’s disease can vary greatly from person to person. These symptoms can be confused with other disorders such as depression and schizophrenia and are often misdiagnosed. There may also be changes in personality or behavior. Most people with Wilson’s disease with psychiatric symptoms also have neurological symptoms.

Young girls with Wilson’s disease may suffer from menstrual disorders, or even periods may not even appear at all. This is due to a general disturbance of hormone metabolism caused by liver disease caused by Wilson’s disease. Irregular periods, missed periods, miscarriages and infertility are also common.

Other signs and symptoms of Wilson’s disease may include kidney stones and damage to the kidney tubules, premature arthritis and bone inflammation, including osteoporosis, and the appearance of bone processes (osteophytes) in large joints. There may also be reduced spine and limb joint spaces.

Wilson’s disease is often confused with other liver conditions such as alcoholic liver disease, fatty liver disease from obesity, or acute liver failure from hepatitis viruses or drugs / toxins. It can also be confused with other neurological diseases such as Parkinson’s disease and multiple sclerosis.

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Wilson’s disease – diagnosis

Diagnosing Wilson’s disease can be quite complicated as it is a relatively rare disease. In addition, common symptoms such as psychiatric symptoms or hepatitis can initially be attributed to other causes. Therefore, the following tests should be performed in the diagnosis of Wilson’s disease:

1. blood and urine tests – to assess liver function, blood counts, and levels of ceruloplasmin (a copper transfer protein that is often low in Wilson’s disease)
2. urine test to detect excess copper that is excreted in the urine
3. eye examinations – in search of a brown ring-shaped color in the cornea (Kayser-Fleischer rings),
4. liver biopsy – a small sample of liver tissue is taken and tested for excess copper
5. genetic tests – which are very helpful when they are positive. 

The above tests may show Wilson’s disease before symptoms appear. Remember, however, that a single test cannot diagnose or rule out Wilson’s disease.

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Wilson’s disease – treatment

Treatment of Wilson’s disease consists in administering to the patient preparations that remove excess copper from the body. The therapy is usually divided into two stages. The first is to lower the concentration of copper in the tissues below its toxic level. The second is to keep its concentration low through maintenance therapy.

Treatment is focused on the administration of two drugs: penicillamine and, instead, triethylenetetramine. The first drug has been used since 1956 and is still a standard in the treatment of Wilson’s disease. The action of both drugs is based on the binding of copper atoms to form water-soluble complexes that can be excreted in the urine.

The therapy is usually long-lasting, which is associated with the occurrence of many side effects. When this happens, treatment must be stopped. When the patient recovers, treatment is resumed, but his schedule is different. Re-treatment is initiated by administering the lowest dose of the drug and gradually increasing it.

Wilson’s disease – diet

As mentioned earlier, the copper that builds up in the body is absorbed from the gastrointestinal tract, which goes hand in hand with the diet. Therefore, it is necessary to eliminate copper-rich foods such as fish, nuts, giblets (liver), chocolate and mushrooms from the diet.

It is also worth paying attention to the quality of the water. People living in areas where there is a lot of copper in their drinking water should use bottled water when preparing meals.

A person suffering from Wilson’s disease must have regular health checks. If the disease is well treated and the health condition is monitored, the disease does not interfere with study or work. It also does not affect life expectancy.

Wilson’s disease – complications

If left untreated, Wilson’s disease can be fatal. It can also cause numerous complications, including:

1. scarring of the liver (cirrhosis) – while liver cells try to repair the damage caused by excess copper, scar tissue forms in the liver, making it harder to function,
2. liver failure – it may come on suddenly (acute liver failure) or it may develop slowly over the years. Liver transplant may be a treatment option
3. persistent neurological problems Tremors, involuntary muscle movement, awkward gait and difficulty speaking usually improve with treatment for Wilson’s disease. However, some people develop persistent neurological problems despite treatment.
4. kidney problems Wilson’s disease can damage the kidneys, leading to problems such as kidney stones and an abnormal amount of amino acids in the urine
5. psychological problems – these can be personality changes, depression, irritability, bipolar disorder or psychosis.