Copper Storage Disease - Wilson Disease

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Copper Storage Disease - Wilson Disease
Copper Storage Disease - Wilson Disease
Video: Copper Storage Disease - Wilson Disease
Video: Dr. Becker Explains Copper Storage Disease 2023, February
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Copper storage disease

Copper storage disease (Wilson's disease) is a rare, hereditary disorder of the copper metabolism in the liver. A defective elimination via the bile leads to an accumulation of copper, especially in the liver and brain. The first symptoms usually appear between the ages of five and 45. The disease often leads to death if left untreated. With early diagnosis and consistent drug therapy, those affected can expect a normal life expectancy without any health problems. Generally, more copper is absorbed through food than the body needs. In healthy people, excess is eliminated through the bile with the stool.

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  • Does the copper storage disease have causes?
  • What are the symptoms of copper storage disease?
  • How is the diagnosis made?
  • How is copper storage disease treated?
  • Whom can I ask?
  • How are the costs settled?

Does the copper storage disease have causes?

In Wilson's disease, however, mutations in a specific gene (Wilson gene: ATPase 7B gene on chromosome 13q14.3) lead to a reduced excretion of copper and, as a result, to its accumulation in the body. In the long term, this leads to organ damage, especially in the liver and brain. In addition, the kidneys, eyes, heart and digestive tract, musculoskeletal system, endocrine system and skin can also be affected. It is estimated that one in 30,000 people suffers from this disease caused by a genetic defect - there are currently more than 350 known mutations in the so-called Wilson gene.

Inheritance is autosomal recessive, ie only carriers of two mutations on the same gene are affected. This means that the mutated gene is passed on on the maternal and paternal side. People with only one mutated gene stay healthy themselves, but can pass the defect on to their children.

What are the symptoms of copper storage disease?

The disease occurs predominantly between the ages of five and 45, with an incidence peak between the ages of 13 and 24, and can be very different. For some sufferers, symptoms affecting the liver are in the foreground at the beginning (especially if they occur up to puberty) and for others the neurological symptoms. A smaller part shows psychiatric abnormalities at the initial diagnosis (e.g. personality changes, cognitive disorders up to dementia and depression as well as psychoses).

Course of disease

A distinction is made between a preclinical (asymptomatic, ie symptom-free) and a clinical (symptomatic) stage. The symptoms of the clinical stage depend on which organ system loses functionality first.

Possible symptoms depending on the organ system affected include:

  • Liver: Elevated liver values, enlarged spleen, hepatitis, liver cirrhosis, dropsy (ascites), jaundice (jaundice), fulminant liver failure;
  • Nervous system: tremors, ataxia, coordination and movement disorders, increased salivation, spasticity, epileptic seizures, cognitive disorders, personality changes, depression;
  • Eyes: Kayser-Fleischer corneal ring, sunflower cataract;
  • Blood: hemolysis.

How is the diagnosis made?

The symptoms that can be associated with Wilson's disease are often non-specific. Laboratory tests (copper level in the blood and urine, ceruloplasmin in the blood) and molecular genetic tests are used for diagnosis. Furthermore, a score system with a number of disease parameters is used. If necessary, a liver biopsy and imaging procedures such as ultrasound and MRI as well as an ophthalmological examination (slit lamp examination on Kayser-Fleischer (KF) rings) are carried out.

Furthermore, a family screening should be carried out in order to be able to identify relatives who are not yet recognizably ill at an early stage.

Note The earlier Wilson's disease is diagnosed, the sooner the onset of symptoms and the progression of the disease can be prevented. In contrast, inadequate or inadequate treatment can lead to increased damage to organs and ultimately death.

How is copper storage disease treated?

Lifelong drug therapy with copper chelators (D-penicillamine, Trientine) or zinc salts should be initiated immediately after the diagnosis and continued permanently. This also applies to special life situations such as pregnancy and breastfeeding. Copper chelators bind copper deposited in organs and tissues. These copper complexes enter the bloodstream and are eliminated through the kidneys. Zinc salts are supposed to prevent copper from accumulating again in the body.

With early, lifelong treatment and regular check-ups, those affected can lead a largely symptom-free life with a normal life expectancy.

Whom can I ask?

Specialists in internal medicine with an additional subject in gastroenterology and hepatology are responsible for diagnosing and treating copper storage disease.

How are the costs settled?

All necessary and expedient steps for diagnosis and therapy are taken over by the health insurance carriers. Your doctor or the outpatient clinic will generally settle accounts directly with your health insurance provider. However, you may have to pay a deductible with certain health insurance providers (BVAEB, SVS, SVS, BVAEB).

However, you can also use a doctor of your choice (ie doctor without a health insurance contract) or a private outpatient clinic.

You can find more information under Costs and Deductibles and on the website of the social security agency.

When hospitalization is required

A hospital stay is sometimes necessary if a serious illness occurs. Here, the hospital costs are billed. The patient has to pay a daily contribution to the costs.

For more information, see What does a hospital stay cost?

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