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Morbus Wilson Disease
Wilsons Disease
Wilson's disease is an inherited disorder of the copper metabolism and leads to a harmful accumulation of copper in many organs over time. The liver, the nervous system and the brain are particularly affected.
Wilson's disease was first described in 1912 by Samuel Alexander Kinnier Wilson as a rare familial chronic disease of the liver and central nervous system (hepato-lenticular degeneration).
Men and women are equally affected by the disease. According to current knowledge, the prevalence rate of Wilson's disease is 30 per million, which means that one person in 33'333 has the disease.
Cause & Effect
Usually, copper is excreted via the bile ducts into the intestine. In Wilson's disease this metabolism is disturbed by a genetic, autosomal recessive defect.
The blood in the liver stores the copper and from there it reaches the kidneys, the brain and the cornea of the eye. Over the years, a reduced excretion leads to a harmful accumulation of copper in many organs.
In a heterozygous state, the genetic information of a gene is sufficient to ensure a healthy metabolic function. If two defective genes meet, a functional failure occurs. If both parents are carriers of the same defective genetic make-up without becoming ill themselves - it means that they are autosomal recessive. If both parents now inherit the defective gene, the child will develop Wilson's disease.
Symptoms & Diagnosis
There are several symptoms that can indicate Wilson's disease. These often occur between the ages of 5 and 45 with a peak in frequency between the ages of 13 and 24.3
Unclear hepatic, neurological or psychiatric dysfunction, especially in young patients, may indicate Wilson's disease. In children, damage to the liver is often the primary concern. Hepatitis or cirrhosis of the liver may occur.
In adolescents and young adults, neurological deficits come to the fore. There is a disorder of speech motor skills as well as writing disorders, trembling of limbs, gait and swallowing disorders, sometimes also psychological changes.
An early diagnosis is important in order to achieve a lasting improvement of symptoms.
The diagnosis of Wilson's disease is easy once the disease is suspected.
The most important examinations for the diagnosis of Wilson's disease are:
- Laboratory chemical tests: Copper and ceruloplasmin in serum, copper in 24-hour urine
- Liver biopsy with determination of hepatic copper
- Ophthalmological examination after the Kayser-Fleischer corneal ring
- Genetic test
Treatment
Permanent medicinal treatment with copper chelators (D-penicillamine, Trientine) or zinc salts is necessary. With lifelong consistent treatment and consistent therapy, the prognosis is favourable.
The aim of the treatment is to reduce the copper content in the body by removing the excess copper through medication. These include chelating agents (Trientine and D-penicillamine) and zinc. Those affected must continue this treatment throughout their lives, e.g. even during pregnancy. Avoiding foods with a high copper content is a sensible accompanying measure.
A control of the copper metabolism every six months is essential. In addition, regular liver monitoring (liver values and ultrasound) is necessary and the examination of neurological symptoms is recommended.
If acute inflammation of the liver with liver failure occurs during the course of the disease, a liver transplant may be necessary; the new liver can excrete copper in the normal way.
Careful family screening is advisable, as even patients who have not yet developed symptoms must be treated adequately at an early stage. This is the only way to protect patients without symptoms from disease progression and possible complications.
General note:
This information is for general information purposes only. It should not be used for the diagnosis or treatment of a disease and does not replace consultation with a doctor.