Wilson's disease: symptoms, causes and treatment

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 if the amount of copper in the body is excessive; is what happens in Wilson's disease.

This rare disease is inherited from parents in an autosomal recessive pattern. In this article we will learn about its risk factors, what its symptoms are, and how it can be treated.

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Copper and its impact on health

Copper is a substance (trace element) that we extract from some foods such as chocolate or cereals, and that contributes to maintaining good health. It is 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 is involved 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.

We normally absorb copper 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 inherited disorder, which makes the body unable to get rid of extra copper and therefore accumulates 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 copper metabolism 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 the diagnosis is often made then. It can also affect older or younger people.

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

Wilson's disease diagnosis It is carried out based on a physical analysis and laboratory tests, and it is not usually very complex.

Symptoms

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.

The signs and symptoms can 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 manifest such 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).
• Fluid buildup in the legs or abdomen.
• Problems speaking, swallowing, or with physical coordination.
• Uncontrolled movements or muscle stiffness.

Causes

The direct cause of Wilson's disease is heredity; this follows an autosomal recessive pattern, which means that to have it, you must inherit a copy of the defective gene from each father or mother. If a person receives only one abnormal gene, they will not have the disease, although they will be considered a carrier and their sons or daughters are likely to inherit the gene.

Risk factor's

The risk of developing Wilson's disease is increased if the father, mother, or one of the siblings is a carrier or has the disease. It is because of that in these cases it is advisable to carry out a detailed genetic analysis, to determine whether or not you have the disease.

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

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Treatment

Wilson's disease is a treatable disease; Thus, if it is detected early and appropriate treatment is administered, people who suffer from it can enjoy good health and a good quality of life.

Said treatment will consist of a Pharmacotherapy, specifically in the administration of drugs that eliminate additional or “excess” copper from the body.

In addition to taking these medications, patients with this disease must follow a low-copper diet for life. Thus, they should avoid foods with high levels of copper, such as molluscs or liver.

On the other hand, when treatment begins, some specific foods should also be avoided such as chocolate, soups and nuts or dried fruits.

Patients should also test the water in the house (to control the amount of copper it has) and not take vitamins that contain copper.

Bibliographic references:

• NIH: National Institute of Diabetes and Digestive and Kidney Diseases. (2019). Wilson's disease. MedlinePlus.
• Hernandez, M.D. and Lopez, S. (2011). Wilson's disease. Journal of the Clinical Laboratory, 4(2), 102 - 111.