Wilson’s Disease: Symptoms, Causes and Treatment

A genetic disease related to the poor metabolism of copper in the body.


Copper is an essential trace element that we absorb from some foods and that allows us to enjoy good health. However, it is toxic and harmful to health that the amount of copper in the body is excessive; is what happens in Wilson’s disease.

This rare disease is inherited from the parents from an autosomal recessive pattern. In this article we will know their risk factors, what their symptoms are and how they can be treated.

Copper and its impact on health

Copper is a substance (trace element) that we extract from certain foods such as chocolate or cereals, and that contributes to maintaining good health. Involved in the formation of hemoglobin, red blood cells and various enzymes; it also participates in the degradation of carbohydrates, lipids and proteins.

In addition, it intervenes in the assimilation of vitamin C by the body.

Thus, copper has a fundamental role in the development of healthy nerves, bones, collagen and melanin, the pigments of the skin. Normally, copper is absorbed from food, and its excess is excreted through a substance produced in the liver (bile).

However, in people with Wilson’s disease, copper is released directly into the bloodstream. This can lead to significant damage to the brain, kidneys and eyes.

Wilson’s disease: characteristics

Wilson’s disease is a rare hereditary disorder, which means that the body can not get rid of extra copper and therefore accumulate copper in the liver, brain and other vital organs. To stay healthy, the body needs certain amounts of copper, but if its presence is too high this can be toxic.

This disease, in which the metabolism of copper is altered, exists from birth, although it is true that the symptoms do not begin to manifest until later, usually between 5 and 35 years of age. That is why many times the diagnosis is made then. It can also affect older or younger people.

At a symptomatic level, the disease begins to affect the liver, the central nervous system or both at the same time.

The diagnosis of Wilson’s disease is based on a physical analysis and laboratory tests, and is not usually very complex.


As we have seen, although Wilson’s disease is present from birth, the signs and symptoms do not manifest until a certain amount of copper accumulates in the brain, liver or other vital organ.

Signs and symptoms may vary depending on the parts of the body that are affected by the disease.

The most characteristic symptom is the presence, around the cornea of ​​the eye, of a brown ring. However, other symptoms are manifested as:

  • Fatigue, lack of appetite or abdominal pain.
  • Yellowing of the skin and the whites of the eyes (jaundice).
  • Color changes in the eyes to golden brown (Kayser-Fleischer rings).
  • Accumulation of fluid in the legs or abdomen.
  • Problems speaking, swallowing or physical coordination.
  • Uncontrolled movements or muscular rigidity.


The direct cause of Wilson’s disease is the inheritance of it; it follows an autosomal recessive pattern, which means that in order to suffer it, a copy of the defective gene of each parent must be inherited. If the person receives a single abnormal gene, he will not suffer from the disease, although he will be considered a carrier and it is likely that his sons or daughters inherit the gene.

Risk factors

The risk of Wilson’s disease increases if the father, mother or one of the siblings is a carrier or has the disease. That is why in these cases it is convenient to carry out a detailed genetic analysis, to determine whether the disease is suffered or not.

As we will see, the sooner the disease is detected, the more likely it is that the treatment will be effective.


Wilson’s disease is a treatable disease; thus, if it is detected early and an adequate treatment is administered, the people who suffer it can get to enjoy good health and a good quality of life.

Said treatment will consist of a pharmacological treatment, specifically in the administration of drugs that eliminate additional or “extra” copper from the organism.

In addition to the taking of these drugs, patients with this disease should continue a low-copper diet for life. Thus, they should avoid food with high levels of copper, such as molluscs or liver.

On the other hand, when you start the treatment, you should also avoid some specific foods such as chocolate, slush and nuts or nuts.

Patients should also perform house water tests (to control the amount of copper they have) and not take vitamins containing the metal.