Wilson’s disease: symptoms, causes and treatment

Copper is an essential trace element that we absorb from certain foods and which 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 to Wilson’s disease.

This rare disease is inherited from the parents of an autosomal recessive pattern. In this article, we will know its risk factors, symptoms and how it 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 helps maintain good health. It is involved in the formation of hemoglobin, red blood cells and various enzymes; it also participates in the breakdown of carbohydrates, lipids and proteins.

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

    Thus, copper plays a key role in the development of healthy nerves, bones, collagen and melanin, the pigments of the skin. Copper is generally absorbed from food, And we excrete its excess through a substance produced in the liver (bile).

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

    Wilson’s disease: features

    Wilson’s disease is a rare inherited disorderThis makes the body unable to get rid of the extra copper and therefore builds up 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, it can be toxic.

    This disease, in which the metabolism of copper is impaired, it exists since birthWhile it is true that symptoms do not start to appear until later, usually between 5 and 35 years old. This is why the diagnosis is often made then. It can also affect older or younger people.

    Symptomatically, the disease begins to affect the liver, the central nervous system, or both.

    The diagnosis of Wilson’s disease it is carried out on the basis of physical analysis and laboratory tests, And it’s usually not very complex.

    symptoms

    As we have seen, although Wilson’s disease is present from birth, the signs and symptoms do not appear until some copper builds up in the brain, liver, or other vital organ.

    The signs and symptoms may vary depending on the parts of the body affected by the disease.

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

    • Fatigue, lack of appetite or abdominal pain.
    • Yellowish color on the skin and in the white part of the eyes (Jaundice).
    • The eye color changes to golden brown (Kayser-Fleischer rings).
    • Accumulation of fluid in the legs or abdomen.
    • Problems with speech, swallowing or physical coordination.
    • Uncontrolled movements or muscle stiffness.

    the causes

    The direct cause of Wilson’s disease is heredity; this one follows an autosomal recessive pattern, Which means that in order to suffer from it, one copy of the defective gene must be inherited from each parent. If the person receives only one abnormal gene, they will not have the disease, even if they are considered to be a carrier and their children will likely inherit the gene.

    Risk factors

    The risk of suffering from Wilson’s disease increases if the father or mother or one of the siblings is a carrier or has the disease. that’s why in these cases, it is convenient to perform 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.

      treatment

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

      This treatment will consist of a pharmacological treatmentSpecifically, in the administration of drugs that remove extra or “excess” copper from the body.

      In addition to taking these drugs, patients with this disease will need to follow a low copper diet for life. Thus, they should avoid foods rich in copper, such as shellfish or liver.

      On the other hand, when starting the treatment, you should also avoid certain specific foods such as chocolate, fries and nuts or walnuts.

      Patients will also need to test their home water (to monitor how much copper they have) and not take any vitamins that contain this metal.

      Bibliographical references:

      • NIH: National Institute of Diabetes, Digestive and Kidney Diseases. (2019). Wilson’s disease. MedlinePlus.
      • Hernández, MD and López, S. (2011). Wilson’s disease. Journal of the Clinical Laboratory, 4 (2), 102-111.

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