What is Wilson's disease and how can it be treated?

Wilson's disease is a A rare genetic disorder that affects copper metabolism. What happens is that the material tends to accumulate in certain organs, such as the liver, the eyes and the brain. When this happens it can cause severe damage to them.

The symptoms of Wilson's disease usually appear during childhood. However, in many cases it is difficult to reach the diagnosis. Therefore, it is usually necessary to carry out a series of complementary tests to achieve this.

In addition, if adequate treatment is not established, the pathology can be fatal. Therefore, in this article we explain everything you need to know about Wilson's disease, how to identify it and why it occurs.

What is Wilson's disease?

Wilson's disease is also called hepatolenticular degeneration, as indicated by a study carried out at the Medical University SUNY Upstate. It is an inherited disorder that causes the accumulation of copper in the body.

Copper is an essential mineral for the body to function properly. It contributes to the development of nerves, bones, melanin and even collagen in the skin. The normal thing is that it is in a balanced concentration, since it is absorbed continuously with the diet and is excreted with the bile.

What happens in Wilson's disease is that the body is unable to eliminate excess copper. That is why it tends to accumulate. The accumulation occurs in organs such as the liver, the eye and the brain, among others. In them, when it is in high concentrations, it becomes toxic.

As it is a genetic disorder, it has been present since childhood. However, the diagnosis can be delayed until youth. As explained by the Wilson Disease Association, is a rare disease. It is estimated that it affects 1 in 30,000 people worldwide.

What symptoms does it produce?

As we have pointed out in the previous section, Wilson's disease is present from birth. However, as an article by Rare Diseases, symptoms do not usually appear until childhood or adolescence.

This is because it takes a period of time for copper to build up. Many children debut between 6 and 7 years of age with liver failure. However, the signs vary depending on which organ is most affected.

One of the most common manifestations is general discomfort with tiredness, abdominal pain and lack of appetite. Jaundice is very common. It consists of the yellowing of the skin and the whites of the eyes.

In the eyes there is usually a very characteristic sign, called Kayser-Fleischer ring. It is a kind of golden brown circle on the iris due to an accumulation of copper in it.

People with Wilson's disease can also have symptoms from neurological involvement. It is usual to appear stiffness and difficulty coordinating movements. Some have trouble speaking and swallowing.

Jaundice is a common symptom in patients with Wilson disease who have liver involvement.

Causes and risk factors

Wilson's disease is a genetic disorder. It is transmitted by autosomal recessive inheritance. This means that both parents must have the altered gene to pass it on to their offspring.

In addition, there is a 25% probability that the child will express the disease. Therefore, the biggest risk factor is a family history. If a family member has the disease, genetic tests may be ordered in children to start treatment as soon as possible.

The gene that is related to the pathology is found on the long arm of chromosome 13. It is an altered gene (ATP7B) that encodes one of the proteins responsible for the elimination of copper with the bile.

Possible complications of Wilson's disease

Wilson's disease is associated with numerous complications. In fact, if left untreated it is a life threatening disorder. The organs are progressively damaged by the deposit of copper.

That is why it is common to see liver failure and cirrhosis. The liver tries to repair the damage caused by copper, but it ends up forming scar tissue that prevents it from working properly.

The kidney can also be affected, because copper is also excreted in the urine. This leads to increased kidney stone formation.. At the blood level, anemia and jaundice are common.

However, much of the serious complications of Wilson's disease are neurological. Copper builds up in the brain, which can lead to irreversible damage. There are usually psychological problems, irritability, depression and even bipolar disorder.

As the disease progresses, problems with speech, mobility and walking are added. Some functions can be recovered with treatment, but this is not always possible.

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How is Wilson disease diagnosed?

As explained by specialists from the Mayo Clinic, the diagnosis of Wilson's disease is complicated in some situations. This is because It progressively occurs with symptoms similar to other pathologies.

For this reason, it is usually necessary to resort to a series of complementary tests. The first to be done is a blood and urine test. With them you can check the concentration of copper present, as well as that which is eliminated via the urinary tract.

Genetic analysis is very useful if there is a family history. As we have explained in the previous section, this allows early identification to quickly establish treatment.

In some cases, a liver tissue biopsy is required. It is one of the definitive diagnostic tests. The tissue is examined in the laboratory to see if there is excess copper.

Finally, it is important to note that, Sometimes Wilson's disease is found by an eye exam. In an ophthalmic examination, Kayser-Fleischer rings may be seen in the iris.

Sometimes it is the ophthalmologists who diagnose Wilson's disease, since they discover the characteristic ring of the iris.

Available treatments

Fortunately, there are currently different treatments available for this pathology. They are not curative, but they do serve to slow the progression. The idea is to stop the accumulation of copper in the organs.

For this, different drugs can be used. One of them is penicillamine, which acts as a copper chelator. The problem is that it has numerous serious side effects. For example, it can suppress the bone marrow.

Another medicine is zinc acetate. It works by preventing the absorption of copper that is obtained from foods in the diet. This is usually the maintenance or treatment of choice if there is intolerance to penicillamine.

In some cases, liver disease is very serious and a liver transplant may be necessary. Therefore, part of the approach also considers surgery.

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Can Wilson disease be prevented?

There is no way to prevent Wilson's disease itself. But there are certain measures that can help reduce the accumulation of copper. For example, trying to limit the intake of foods rich in this mineral.

Shellfish, walnuts, liver of other animals, chocolate, and mushrooms are some examples. It is recommended that people who have been diagnosed with this pathology do not consume any of them or do so in a limited way.

What we must remember is that Wilson's disease is an inherited disorder. So it is essential to follow up all family members in the event that a case appears.

The prognosis of the disease will depend, above all, on how quickly the treatment is established. The earlier the pathology is detected, the less risk there will be.