Wilson's disease is a rare but very dangerous metabolic disease. In its course, copper, which accumulates in excess in the body, damages the brain and liver, gradually leading to their failure. What are the causes and symptoms of Wilson's disease? How is her treatment going?

Wilson's disease , otherwiselento-hepatic degeneration , is genetically determinedmetabolic disease , the essence of which is the deposition of excess copper in organs, mainly in the liver and brain, as well as in the cornea, heart and kidneys. This condition is caused by a malfunctioning system of removing this element from the body (the one responsible for the absorption of copper from the digestive system works properly). As a consequence, the organs in which copper accumulates are damaged and their work is gradually disrupted.

Wilson's disease belongs to the groupof rare diseases . Its frequency is estimated at 30/100 000 inhabitants.

Wilson's disease - causes

The cause of Wilson's disease is a mutation in the ATP7B gene, which leads to impaired biliary excretion of copper, and thus - its accumulation in the body. The defective gene is inherited in an autosomal recessive manner, ie a copy of the damaged gene must be inherited from each parent for symptoms of the disease to develop. It is estimated that 1 in 90 people are asymptomatic carriers of such a gene.

Wilson's disease - symptoms

Initially, copper is only deposited in the liver. When it is overloaded, the copper is released and travels through the bloodstream to other organs. Then the following symptoms appear:

  • liver- symptoms may take the form of inflammation, steatosis or cirrhosis of the liver with portal hypertension, ie enlarged liver, abdominal pain, yellowish skin, bruises on the skin, swelling of the legs;
  • nervous system- symptoms of generalized dystonia (involuntary performance of unnatural movements), parkinsonian symptoms (including muscle tension disorders, movement disorders in the form of tremors and head tremors) may appear, difficulty swallowing and speech impairment, drooling);
  • Kayser-Fleischer ring- copper deposits in the cornea of ​​the eye that form a golden-brown ring (a symptom ofcharacteristic of Wilson's disease, which confirms the diagnosis);
  • some patients may developpersonality and behavioral disorders (aggression, substance addiction, school and work difficulties), and even mania and depression;

Although copper accumulation in Wilson's disease begins from birth, symptoms most commonly appear between the ages of 20 and 30.

Wilson's disease - diagnosis

The basis for diagnostics are blood tests (the concentration of ceruloplasmin - an enzyme that contains about 90% of copper in blood serum, only copper and liver enzymes), and urine (to determine the amount of copper excreted in the urine during days). In order to confirm the diagnosis, an eye examination is performed using the so-called slit lamp. Final diagnosis is made on the basis of genetic testing.

Wilson's disease - treatment

The goal of therapy is to remove excess copper from the body and prevent it from accumulating again. The patient is most often administered penicillamine. It is a drug that combines with copper ions and forms the so-called complex compounds that are well soluble in water, so they can be excreted in the urine. This type of treatment is life-long. The exception are patients after liver transplant (for which the indication is liver failure).

This will be useful to you

Wilson's disease - diet

People with Wilson's disease should eliminate copper-rich foods from their diet, that is:

  • fish
  • nuts
  • whole grains of cereals (including wholemeal bread, flakes)
  • offal (liver)
  • chocolate
  • yeast
  • lettuce
  • mushrooms
  • some water

There is little copper in milk, apples, tomatoes, oranges, eggs, meats, beef.

You should also refrain from using copper cutlery or kitchen utensils.

About the authorMonika Majewska A journalist specializing in he alth issues, especially in the areas of medicine, he alth protection and he althy eating. Author of news, guides, interviews with experts and reports. Participant of the largest Polish National Medical Conference "Polish woman in Europe", organized by the "Journalists for He alth" Association, as well as specialist workshops and seminars for journalists organized by the Association.

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Category:

Genetic diseases