Wilson’s disease

Wilson disease is a disorder in the copper metabolism with autosomal recessive inheritance affecting approximately 3 in 100,000 people. In Wilson’s disease, copper excretion via the liver and bile is dysfunctional, which results in copper overloading in the body. The most severe copper deposits affect the liver, brain and kidneys. The prognosis of untreated Wilson’s disease is poor, and there is a risk of death. Symptoms may initially arise from liver (60%) or brain involvement (40%). It is not uncommon for both organ systems to be affected.

In most patients, the symptoms start at the age of 5-35 years. The image of nerve damage is characterized by rigidity (muscle stiffness) and movement disorders, which are similar to those seen in Parkinson’s disease. Tremor (trembling), instable walking, and articulation problems (dysarthria) may also be present. Some patients may experience fulminant liver disease with cirrhosis and liver degeneration; sometimes a liver transplant is the last resort. Signs of hemolysis (rupturing of red blood cells), thrombopenia (reduction in blood platelets) and anemia can be found in the blood. In about half of the patients, the copper deposits in the cornea of ​​the eye lead to a greenish-brown ring (Kayser-Fleischer ring), which, however, can often only be detected by the ophthalmologist.

The prognosis has improved significantly with the possibility of treating with the chelating agent D-penicillamine, especially if no advanced organ damage has yet occurred. This drug binds (chelates) copper in such a way that it can be excreted in the urine and no longer burdens the body. By and large, with early treatment of only slightly ill patients a freedom from symptoms and an almost normal life expectancy can be accomplished. If Wilson disease is also found in the siblings of a Wilson patient, they must be treated even in the absence of symptoms.

Diagnosing Wilson disease can be very difficult due to the wide range of signs and symptoms. Important laboratory values ​​are the determination of copper in the blood and urine (urine collected over 24 hours) and the determination of caeruloplasmin in the blood. The evaluation of the laboratory results should be done by a physician who has a lot of experience in this field. A reliable diagnosis can be brought forth by carrying out a liver biopsy with precise determination of the copper ratio in the liver tissue. Since several hundred different mutations have been described in Wilson’s disease, detection by genetic diagnostics has proven to be very difficult.

The standard therapy is the oral administration of the copper chelating agent D-penicillamine, which increases the excretion of copper in the urine and thus reduces the copper concentration in the body. Unfortunately, D-penicillamine is not always well tolerated. An alternative is the copper chelating agent Trientine (Triene). However, this drug must be ordered from the international pharmacy. Some centers also use zinc supplements for treatment. These reduce copper absorption in the intestine and convert toxic copper into a less toxic compound. However, German treatment centers advise against zinc therapy alone without the initial administration of a chelating agent such as D-penicillamine or Triene. As an accompanying measure, it is recommended to avoid foods rich in copper, including offal, nuts, mushrooms, whole grains, cocoa, chocolate, seafood, grape must and other foods.

Information, Beratung und Hilfe für Wilson-Kranke bietet der 1990 gegründete Verein Morbus Wilson e. V., Leiblstraße 2, 83024 Rosenheim, Tel. 08031 249230; Fax. 08031 43876;


Prof. Dr. Claus Niederau
Katholisches Klinikum Oberhausen GmbH, St. Josef-Hospital
Akademisches Lehrkrankenhaus der Universität Duisburg-Essen
Mühlheimer Str. 83, 46045 Oberhausen
Telefon 0208 8374501; Telefax 0208 8374569; E-Mail c.niederau@kk-ob.de