Wilson's disease: symptoms, diagnosis and treatment

Wilson's disease is a rare genetic disease, caused by the body's inability to metabolize copper, causing copper to accumulate in the brain, kidneys, liver and eyes, causing intoxication in people.

This disease is inherited, that is, it passes from parents to children, but it is only discovered, in general, between 5 and 6 years of age, when the child begins to show the first symptoms of copper poisoning.

Wilson's disease has no cure, however, there are medications and procedures that can help reduce the buildup of copper in the body and the symptoms of the disease.

Symptoms of Wilson's Disease

The symptoms of Wilson's disease usually appear from the age of 5 and happen due to the deposition of copper in various parts of the body, mainly the brain, liver, cornea and kidneys, the main ones being:

  • Insanity;
  • Psychosis;
  • Tremors;
  • Delusions or confusion;
  • Difficulty walking;
  • Slow movements;
  • Behavior and personality changes;
  • Loss of ability to speak;
  • Hepatitis;
  • Liver failure;
  • Abdominal pain;
  • Cirrhosis;
  • Jaundice;
  • Blood in the vomit;
  • Bleeding or bruising;
  • Weakness.

Another common characteristic of Wilson's disease is the appearance of red or brownish rings in the eyes, called the Kayser-Fleischer sign, resulting from the accumulation of copper in that location. It is also common in this disease to show copper crystals in the kidneys, leading to the formation of kidney stones.

How the diagnosis is made

The diagnosis of Wilson's disease is made through the assessment of symptoms by the doctor and the results of some laboratory tests. The most requested tests that confirm the diagnosis of Wilson's disease are 24-hour urine, in which a high concentration of copper is observed, and the measurement of ceruloplasmin in the blood, which is a protein produced by the liver and is normally linked to the copper to have function. Thus, in the case of Wilson's disease, ceruloplasmin is found in low concentrations.

In addition to these tests, the doctor may request a liver biopsy, in which characteristics of cirrhosis or liver steatosis are observed.

How to treat

The treatment of Wilson's disease aims to decrease the amount of copper accumulated in the body and improve the symptoms of the disease. There are medications that can be taken by patients, as they bind to copper, helping to eliminate it through the intestines and kidneys, such as Penicillamine, Triethylene melamine, zinc acetate and vitamin E supplements, for example.

In addition, it is important to avoid consuming foods that are sources of copper, such as chocolates, dried fruits, liver, seafood, mushrooms and nuts, for example.

In more severe cases, especially when there is major liver involvement, the doctor may indicate that you have a liver transplant. See what recovery is like after a liver transplant.