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Wilson disease: symptoms and treatment

by Alivia Nyhan
Published: Last Updated on

Wilson’s disease is a disease of congenital origin. It is an autosomal recessive type, which means that genetic information developed is contained in the genes of both parents, although they did not suffer. The genetic information to develop this disease is found on chromosome 13, in a gene called ATP7B, which is responsible for telling the body how to make a protein that is key to removing copper from the body. This protein works in the liver to extract copper from liver cells to be eliminated with the bile in the feces, and a small part is eliminated in the urine.

In this disease, the person cannot dispose of the copper he ingests with food. This copper is stored in the tissues and causes them to stop working correctly. The central tissues affected are the liver and the brain. Here is the origin of the manifestations that patients experience.

It is a rare disease, occurring only in 10 to 30 people per million inhabitants. Symptoms usually begin to become noticeable in the preschool stage, that is, around the age of 5, although it is known that they can have a late-onset, even appearing in adulthood around 40 years of age. In this FastlyHealarticle, we explain the symptoms and treatment of Wilson’s disease.

Symptoms of Wilson’s disease

There are three types of manifestations of Wilson’s disease: hepatic, neurological, and psychiatric.

The liver manifestation is usually found in younger patients and can present in the form of chronic hepatitis up to cirrhosis. The diagnosis of Wilson’s disease is made by ruling out the conditions that usually affect the liver at this age should be ruled out, such as viral infections that cause hepatitis, among other causes.

A warning data that leads to an accurate diagnosis is the persistent elevation of transaminases, indicating liver damage. Unfortunately, on many occasions, liver disease can go unnoticed because the symptoms can be easily confused since patients tend to have tiredness, loss of appetite, or non-localized abdominal pain. The symptoms of Wilson’s disease that can lead to the diagnosis are:

The neurological symptoms of Wilson’s disease are seen more in adults, where copper deposits in the brain cause behavioral disturbances such as:

  • Tartamudeo.
  • Temblor.
  • Speech disturbance
  • Motor difficulty with weakness.
  • Difficulty walking, swallowing, or eating.
  • Rigidity.
  • Spasms
  • Changes in facial expression.

It is essential to mention that when there is suspicion of Wilson’s disease with neurological affection, a simple test can be performed to observe the copper deposits in the patient’s cornea during the neurological examination. These deposits cause a sign called “Kayser-Fleischer ring,” which could quickly lead to diagnosis if present.

Some psychiatric disorders such as depression, phobias, or compulsive attitudes have also been observed in patients with advanced disease.

Wilson disease diagnosis

It is not easy to diagnose Wilson’s disease; the treating medical team must have a suspicion of the disease, for which other causes of liver damage must have been ruled out.

Once this has occurred, some tests can be done, such as observing the cornea with a slit lamp to visualize the Kayser-Fleischer ring, and some laboratory tests, such as monitoring copper and ceruloplasmin levels. Plasma levels would be reduced, the amount of copper excreted in the urine in a standard way is measured, and, later, the amount excreted when D-penicillamine is administered with which it would be increased.

Finally, a more specific study can be done, which is the liver biopsy, in which the increased amount of copper in the liver cells would be noticed. The problem with doing a biopsy is that it is very invasive and carries risks for a patient who probably has anemia and clotting failure issues, so this test is reserved as a last resort.

In some cases, a genetic study can also be done to find the mutation in the ATP7B gene, which would provide certainty in the diagnosis.

Wilson disease treatment

Treatment usually improves, decreases, or eliminates the symptoms of Wilson’s disease. It is done with drugs called chelators, the most widely used being D-penicillamine, which causes copper to be eliminated from the body through urine. Its drawback is the occasional presence of side effects such as poor appetite, nausea, vomiting, difficulty swallowing, itching, hives, and fever, so treatment must be closely monitored, especially at the beginning. If the side effects are severe, the patient can be treated with trientine, another chelator, although this drug is difficult to obtain.

If the person has responded well to the treatment, maintenance treatment with zinc salts, such as zinc sulfate or acetate, can be instituted, which prevents the absorption of copper in the intestine and has very few side effects.

Part of the treatment includes modifying the diet, so patients diagnosed with Wilson’s disease should not eat foods rich in copper, such as animal entrails, shellfish, chocolate, jellies, nuts, mushrooms, and some legumes.

Suppose a person has been diagnosed with Wilson’s disease. In that case, it is essential to test their close relatives, specifically their siblings, as they have a high probability (up to 40%) of also having the disease. Additionally, it is recommended to genetically study first-degree relatives (parents and children) to rule out that they also suffer from the disease.

This article is merely informative. At FastlyHeal .com, we do not have the power to prescribe medical treatments or make any diagnosis. We invite you to see a doctor if you present any condition or discomfort.

If you want to read more articles similar to Wilson’s disease: symptoms and treatment, we recommend that you enter our Genetic Disorders category.

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