Brief overview
- Symptoms: Liver complaints such as liver enlargement, hepatitis, jaundice and abdominal pain, later also neurological symptoms such as muscle stiffness, tremor, speech disorders and personality changes.
- Disease progression and prognosis: Prognosis is good with early diagnosis and consistent therapy, and life expectancy is not limited; untreated, Wilson disease is fatal.
- Causes: Due to a genetic defect, copper excretion is impaired, causing copper to accumulate in and damage the liver, central nervous system, and other organs.
- Diagnosis: Physical examination, blood and urine tests, eye examination, possibly liver biopsy.
- Therapy: drugs that promote copper excretion or inhibit copper absorption in the intestine, sometimes liver transplantation
What is Wilson’s disease?
Wilson’s disease only occurs when the mutation is present in both parents and both pass it on to the child.
Wilson’s disease: frequency and incidence
About one person in 30,000 is diagnosed with Wilson disease. However, physicians estimate that the disease is not diagnosed at all in many affected people, so there is a high number of unreported cases. The first symptoms of Wilson’s disease usually appear from the age of five, initially through complaints of the liver. Symptoms of the nervous system usually do not appear until after the age of ten.
What are the symptoms of Wilson’s disease?
- jaundice (icterus) with yellowing of the skin and mucous membranes
- Liver enlargement
- Abdominal pain
- Liver failure
Damage to the nervous system occurs in about 45 of every 100 people affected. Neurological-psychiatric symptoms in Wilson’s disease include:
- Involuntary tremor
- Stiffness of muscles
- Slowed movements
- Speech and writing disorders
- Disturbances of coordination and fine motor skills
- Psychological abnormalities such as depression or personality changes
In addition, in Wilson’s disease copper deposits can be detected in the cornea of the eye. This results in a so-called Kayser-Fleischer corneal ring – a copper-colored discoloration of the cornea around the iris. In rare cases, Wilson’s disease causes skin changes such as excessive pigmentation or so-called spider nevi. These are typical of chronic liver disease and result from dilatation of the skin blood vessels in the affected areas.
Is Wilson’s disease curable?
Wilson’s disease is based on a change in the genetic information and is therefore not curable with medication, but can be treated well. If the pediatrician diagnoses the disease early in childhood, the prognosis is therefore good and life expectancy is not reduced.
In many people, Wilson’s disease does not progress further with consistent therapy; in some, existing damage even regresses. However, it is extremely important for those affected to take the prescribed medication continuously throughout their lives and to attend regular check-ups with their doctor.
If the liver is already very severely damaged, liver failure may occur. In this case, liver transplantation is necessary. The disease can be cured by transplantation because the cells of the donor liver contain an intact Wilson gene, which normalizes copper metabolism.
Causes and risk factors
The cause of Wilson’s disease is a genetic change (mutation). However, this only triggers Wilson’s disease if both parents have the mutation and pass it on to their child. The mutation is passed on from generation to generation. Children of healthy parents who both carry the defective gene have a 25 percent chance of being affected.
Wilson’s disease: Why is so much copper stored?
More than 350 different mutations are known for the mutated Wilson gene. It is responsible for the formation of a protein that transports copper. If the function of this protein is impaired by the mutation, the body no longer excretes sufficient copper via the bile and stores it increasingly in the liver. This is only possible to a limited extent, the liver becomes inflamed and the copper is washed into the blood. In this way, it also reaches the brain and other organs and accumulates there.
In order to diagnose Wilson’s disease, the physician first asks the affected person in detail about the history of the disease and the symptoms (anamnesis).
If copper storage disease is suspected, the doctor palpates the abdomen and performs an ultrasound examination of the abdomen (abdominal ultrasonography) to detect any changes in the liver. He also assesses neurological performance based on gait pattern or special exercises. For example, he asks the patient to bring his index finger to his nose.
The physician uses blood tests to check blood values that indicate liver damage or disturbed copper metabolism. In addition to liver values, caeruloplasmin, which is involved in copper metabolism, is of particular importance. Its concentration is often reduced in people with Wilson’s disease.
In addition, the copper content of the liver is significantly increased in Wilson’s disease. This can be detected by a liver biopsy, in which the physician removes a tissue sample from the liver with a hollow needle under local anesthesia. However, a liver biopsy is usually only necessary in Wilson’s disease if the other tests do not yield a clear result.
Additional examinations in Wilson’s disease
An ophthalmologist uses a slit lamp to examine the eye if Wilson’s disease is suspected. In many patients, the typical Kayser-Fleischer corneal ring around the iris can be detected.
An MRI (magnetic resonance imaging) scan of the head rules out the possibility that neurological symptoms – such as movement disorders – are due to other diseases of the brain.
Wilson’s disease: examination of the family
Treatment
The change in the genetic material that underlies Wilson’s disease cannot be remedied directly. Therefore, drugs are used to keep the levels of copper in the body stable. Two different groups of drugs are available for this purpose:
- Chelating agents (complexing agents)
- Zinc
Chelating agents are drugs that bind the copper present in the body. This enables the body to excrete the copper more easily. On the other hand, zinc in the intestine ensures that the body absorbs less copper from food. It is mainly used in patients who do not yet show any symptoms, as well as during pregnancy.
Sometimes there is a worsening of neurological symptoms during therapy with chelation agents. In this case, too, the treating physicians sometimes opt for zinc therapy.
Wilson’s disease: What you can do yourself
For people suffering from Wilson’s disease, it is advisable to pay attention to a diet low in copper. Although this alone is not sufficient, it supports the drug treatment. Above all, it is advisable to eliminate foods with a high copper content from the diet, such as crustaceans, offal, raisins, nuts or cocoa.
In addition, those affected should have the copper content of their tap water tested. In some households, water pipes contain copper, which passes into the tap water.
