Synonyms
Wilson’s disease, hepatolenticular degenerationWilson’s disease is a genetically determined disease in which there is increased storage of copper in various organs due to a disturbance in copper metabolism (so-called storage disease). This leads to progressive damage to the affected organs, with the liver and brain being particularly affected. Various forms of Wilson’s disease are known; if left untreated, the disease is often fatal.
Therapy is through a life-long low-copper diet and the intake of certain drugs is very successful. In some cases a liver transplantation is necessary. Wilson’s disease is an inherited defect of a protein in the liver cell that regulates the redistribution of copper in the body and the excretion of copper into the bile.
As a result, the body is overloaded with free copper, which has a cell-damaging effect and is mainly deposited in the liver and certain regions of the brain. The eye, kidneys and heart can also be affected. The copper deposits lead to damage and increasing loss of function of the affected organs.
As the residual function of the defective protein can vary, the course of the disease can vary. The frequency of Wilson’s disease is given as 1:30. 000.
The disease is inherited autosomal recessively and occurs slightly more frequently in men. The onset of the disease is in youth and early adulthood, rarely after the age of 40. The disease manifests itself in variously pronounced functional disorders of the affected organs: Liver: increased liver values, fatty degeneration of the liver up to liver cirrhosis (nodular reconstruction of the liver with replacement of the functional tissue by connective tissue).
Liver dysfunction manifests itself in jaundice (yellowing of the skin and the white of the eye), coagulation disorders, anemia, ascites (water retention in the abdomen). Brain: Particularly affected is the system of unconscious support and holding motor functions. This leads to a lack of movement, expressionlessness of facial expression, stiffness of the muscles, but also excessive movements, muscle twitching and trembling, speech and swallowing disorders.
Twitching of the fingers, also known as “flapping of the wings” or “flapping tremor“, is considered quite characteristic. Psychological changes such as tantrums, laughing or crying fits, memory disorders and dementia can also occur in the course of the disease. Eye: The “Kayser-Fleischer corneal ring”, a brownish discoloration on the edge of the iris is a characteristic and diagnostically valuable symptom of Wilson’s disease, but does not restrict vision itself.
Further: Functional disorders can occur at the kidney, the heart can be affected in the sense of cardiomyopathy (weakness of the heart muscle). The above-mentioned discolorations of the iris are diagnostically groundbreaking; when the blood is examined, lower values for the copper transport protein (coeruloplasmin) and total copper are noticeable, while the free copper in the blood is elevated. In the urine, increased copper excretion via the kidneys is noticeable.
In a liver biopsy, an increased copper content of the liver tissue can be detected. In unclear cases, some further tests can provide clarification. The basis of therapy is a lifelong low-copper diet.
Nuts, mushrooms, offal, chocolate and wholemeal products must be avoided. Since a diet alone is not sufficiently effective, drugs are administered which bind the free copper in the body and convert it into a form that can be excreted with the urine (D-penicillamine, trientine). The administration of zinc reduces the absorption of copper from food. In some cases a liver transplantation may be necessary to eliminate the cause of the disease, but this is accompanied by the not inconsiderable general risk of transplantation.
