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Wilson’s disease: Watch out for symptoms, which can lead to misdiagnosis

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Wilson's disease is a rare genetic disease that can affect ages 5 to 40: let's see the causes, symptoms and treatment.

Have you ever heard of Wilson's disease? It is a rare disease that can occur between the ages of 5 and 40. If it affects children and adolescents, it can be asymptomatic, while for adults it triggers disorders that are impossible not to notice. Let's see what are the factors that trigger it, the major problems it causes and the treatment.

Wilson's disease: symptoms

A rare genetic disease, Wilson's disease involves excessive accumulation of copper. In similar quantities, therefore, it is toxic for the body, especially for the liver and brain. However, other organs may also be involved, such as the eyes, bones and kidneys. When the disease is diagnosed early, with the consequent start of treatment, many serious problems are avoided. In fact, in the absence of treatment, various hepatic and neurological complications can arise: hepatitis, jaundice, cirrhosis, liver failure, tremors, speech disorders, behavioral disorders and involuntary movements.

The cause of this rare disease is to be found in the alteration of the ATP7B gene, located on chromosome 13. When this gene generates an outflow of copper in the liver and its difficult incorporation of the protein that transports copper into the blood, or ceruloplasmin. Wilson's disease usually occurs between the ages of 5 and 40. The symptoms , depending on the age group of the patient, are slightly different:

  • children and adolescents: it manifests itself as a pathology of the liver without neurological signs, so it is almost always asymptomatic. Therefore it is discovered by chance, perhaps during routine exams. Growing up, the first symptoms may occur, such as liver dysfunction, cirrhosis and, in rare cases, fulminant hepatitis;
  • young people and adults: tremors, alterations in muscle tone, difficulty in articulating words, involuntary movements, behavioral and mental disorders that can suggest a psychiatric pathology, bone lesions, endocrinological problems affecting the heart and kidneys .

Wilson's disease: diagnosis and treatment

As pointed out, when Wilson's disease is diagnosed early, it allows the patient to lead an almost normal life. Otherwise, however, there is a risk of compromising some organs. Treatment of the syndrome, which varies according to the severity of the disease, involves taking drug therapy aimed at reducing copper deposits in the tissues.

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