Wilson’s disease

What is Wilson’s disease?

It is characterized by the toxic accumulation of copper in various organs, mainly the liver and brain.

If affects between 1 person in 30,000 to 1 person in 100,000, depending on the country.

How is it transmitted?

Wilson’s disease is a rare hereditary genetic disease. It is transmitted in an autosomal recessive manner, i.e. the gene responsible for the disease is recessive.
In order for the disease to manifest itself, a child must have inherited two defective (recessive) genes, one from each parent.
If the parents are not sick, they are considered to be “carriers” of this recessive gene.

What are the symptoms?

They do not appear until the age of 3 years and most often in adolescence (10-20 years). It takes several years before the accumulation of copper becomes toxic to the body.
Liver involvement may be manifested by the appearance of yellowing of the skin (jaundice), increased liver volume (hepatomegaly) and in the most advanced cases, by fluid accumulation in the abdomen, which is called “ascites.”

Brain involvement occurs later in adolescence. The symptoms vary depending on the damaged area: difficulties in school, tremors, swallowing disorders, difficulties with writing or speech.
Some patients may also have psychiatric disorders.

How is it diagnosed?

It is difficult to determine and requires various complementary tests: blood tests and urinalyses, and often a liver biopsy.
A search for a genetic mutation is carried out in the child to confirm the diagnosis, and in family members to identify carriers of the disease.

What are the treatments?

There is a drug therapy that needs to be taken on a lifelong basis.
It focuses on decreasing the level of copper in the body.

What is the prognosis?

It depends on early diagnosis and how quickly treatment is initiated.
If the diagnosis of Wilson's disease is late (for example, in adolescence), the severity of liver damage often requires a liver transplant.
If the diagnosis is made in adulthood, the neurological consequences are often irreversible.