Morbus Wilson is a genetic copper storage disease based on a genetic defect. Copper can no longer be excreted regularly, deposits induce severe damage. The liver, eye and brain are mainly affected. Left untreated, Wilson’s disease is fatal.
What is Wilson’s disease?
Morbus Wilson is a relatively rare, hereditary, metabolic disease and is also known under the names “copper storage disease”, “Wilson’s disease” or “Westphal pseudosclerosis”. Morbus Wilson was named after the British neurologist Samuel AK Wilson (1878 – 1937). See fun-wiki for What is heart disease used for.
The copper metabolism in the liver of those affected is disturbed by one or more gene mutations. Copper that has been absorbed cannot be transported away naturally, it binds and is deposited in the organism.
The course of the disease is characterized by a large number of symptoms, which are primarily evident in liver damage and neurological abnormalities. The frequency of the genetic defect is approximately 1:30,000.
Morbus Wilson is caused by a genetic defect on the 13th chromosome. The so-called “Wilson gene” is inherited in an autosomal recessive manner, whereby the father and/or mother do not have to be ill themselves, but are only carriers of the defective hereditary trait.
Morbus Wilson occurs more frequently in marriages between relatives. If one suffers from Wilson’s disease, there is a disturbance in the copper metabolism, since the transport route of copper from the liver to the bile is impaired. Excess copper ingested with the daily diet cannot be transported by the liver cells into the bile and excreted with the stool, but is deposited in the liver.
There it causes inflammatory reactions that can lead to cirrhosis of the liver. Furthermore, the deposited copper reaches the entire organism from the liver. The liver, the cornea of the eye, the brain and the central nervous system are mainly affected by copper deposits. The excessive copper level damages the affected cells and limits their tasks and functions.
Symptoms, Ailments & Signs
In Wilson’s disease, very different, mostly non-specific symptoms can occur. These include tiredness, loss of appetite, exhaustion , depression, mood swings, abdominal pain, frequent bruising or problems with body coordination. How the disease manifests itself in individual cases depends on which organs and body areas are affected by the disturbed copper metabolism.
In most cases, the first symptoms of the disease appear between the ages of 13 and 24. However, this can also be the case much earlier or later. The consequences of liver damage are often evident even in young patients. This can lead to liver enlargement, hepatitis, fatty liver and, in advanced stages, cirrhosis of the liver.
Wilson’s disease can cause yellowing of the skin and mucous membranes (jaundice). The eyes are also often affected by the disease. The so-called Kayser-Fleischer corneal ring is characteristic of Wilson’s disease. This is a conspicuous change in the cornea, which is noticeable by a golden-brown to greenish ring around the iris.
Night blindness, squinting and inflammation of the optic nerve are also common. Similar to Parkinson’s or Huntington ‘s disease, neurological symptoms such as muscle stiffness, uncontrolled muscle movements, tremors, slow movements, epileptic seizures and writing and speaking disorders often occur.
Diagnosis & History
In general, a distinction is made between the juvenile type of Wilson’s disease, in which the disease begins between the ages of 5 and 20 and progresses rapidly to death if left untreated, and the adult type, in which Wilson’s disease only occurs between the ages of 20 and 40 is diagnosed and is characterized by a slower course.
In childhood, the definitive diagnosis is often preceded by hepatic symptoms (gastrointestinal disorders, liver damage). In adulthood, the first symptoms appear primarily as a result of neurological deficits (speech and swallowing disorders, tremor) and psychiatric abnormalities (psychosis, behavioral disorders).
The clinical picture often manifests itself relatively early in the form of liver disorders. In patients with neurological symptoms, an ophthalmological examination with a slit lamp often shows the Kayser-Fleischer corneal ring, which is caused by copper deposits in the eye. Patients receive a definitive diagnosis through blood tests in which the copper metabolism is examined.
If there is a low serum ceruloplasmin value in combination with an increased copper excretion value in the urine, Wilson’s disease is considered to be confirmed. Additional assurance is obtained through intravenous copper testing, penicillamine stress testing, and genetic testing.
Wilson’s disease causes various symptoms and limitations in the patient. In most cases, however, the disease negatively affects the brain, liver and eyes. Those affected suffer primarily from fatty liver and, as the disease progresses, also from cirrhosis of the liver.
There is trembling of the hands and a general sophistication and forgetfulness. The patient’s everyday life is significantly restricted by Wilson’s disease. Patients can hardly see anything at night, although the visual disturbances can also appear during the day. These symptoms often lead to psychological problems and depression.
The disease can also lead to behavioral disorders. Furthermore, there are also difficulties in swallowing, which make it significantly more difficult to take in normal liquids and food. The disease also negatively affects the coordination and orientation of those affected.
The disease can be treated relatively easily with various medications. There are no particular complications and the symptoms can be well limited. Successful treatment of Wilson’s disease also does not lead to a reduction in life expectancy.
When should you go to the doctor?
The signs of Wilson’s disease are varied and affect different areas. If physical symptoms such as abdominal pain, general malaise or a decrease in performance occur, a doctor’s visit is necessary. If there is swelling in the upper body, changes in breathing activity or noise during digestion, there is an irregularity that needs to be examined and clarified. Changes in the appearance of the skin, the development of pimples or the formation of bruises are signs of an existing disease. If the physical movements can no longer be coordinated as usual, the person concerned needs medical help. Various tests are required to determine the cause.
If, in addition to the physical irregularities, there are also emotional or psychological stresses, a visit to the doctor is also recommended. In the event of noticeable mood swings, an aggressive appearance or withdrawal from social life, a doctor should be informed of the observations. If depressive states occur, a loss of well-being and general zest for life, there is a need for action. If the symptoms persist for several weeks or months, a doctor or therapist should be consulted. If the everyday obligations can no longer be fulfilled due to the present complaints, there is an acute need for action.
Treatment & Therapy
In order to counteract copper deposits, every form of therapy for Wilson’s disease has the goal of draining copper from the body and removing stored copper. Since Morbus Wilson is based on a genetic defect, consistent and, above all, lifelong therapy is necessary.
The disease cannot be cured, but can be treated with suitable therapy concepts. Existing therapy must not be discontinued during pregnancy, either, as this can lead to a renewed flare-up of the disease with consequent liver damage. Copper-binding drugs, so-called chelating agents, are used to remove stored copper or to maintain a balanced copper balance.
D-penicillamine, trientine or ammonium tetrathiomolybdate are often used. A treatment with zinc salts binds copper in the intestinal mucosa and prevents it from getting into the organism. Zinc salt treatments are often prescribed in combination with D-penicillamine. Foods that have a high copper content (chocolate, whole grain products, mushrooms) should be avoided by supplementing a low-copper diet.
Taking vitamin E and avoiding contact with copper (cookware, copper water pipes) are sensible accompanying measures. If severe liver damage is already present as a result of the disease, a liver transplant is the last form of treatment. The procedure carries many risks and requires lifelong immunosuppression. Innovative treatment options such as liver cell transplants are already being tested in animal experiments.
Outlook & Forecast
Left untreated, Wilson’s disease is always fatal. Death usually occurs from liver or kidney failure and can occur within two to seven years. This is likely when the condition manifests itself in early childhood. A different course, which mainly involves neurological involvement, can only be fatal after decades. However, there is a mortality rate of almost 100 percent for all those affected without treatment.
If treatment is started early, Wilson’s disease can be almost completely compensated. There is no risk of damage from the genetic disease, nor is life expectancy limited. A long and healthy life with Wilson’s disease is possible thanks to medical care.
Even in patients who have already suffered damage, this is partially reversible with therapy. This applies to recent neuronal damage and liver damage. In this way, the symptoms can be improved in a good three quarters of all patients. People who have liver problems as a result of Wilson’s disease are better treated than those with neurological symptoms. However, the copper storage disease cannot be cured and is also hereditary. Family members should be screened for this early on.
Prevention of the disease is not possible because it is a genetic defect. If a relative develops Wilson’s disease, it is advisable to be tested so that any therapeutic measures can be taken in good time. If the diagnosis is made very early, any damage that may occur can be suppressed with medication. Parents who are not directly affected can also be carriers of the disease.
In most cases, those affected with Wilson’s disease have only a few and only limited direct follow-up measures available. Ideally, the person affected should contact a doctor at an early stage so that no further complications and symptoms can occur. As a rule, the sooner a doctor is consulted, the better the further course of the disease.
Due to the genetic origin of the disease, it cannot be completely cured. Those affected should therefore seek genetic testing and counseling if they wish to have children in order to prevent the disease from reoccurring. Most patients are usually dependent on taking various medications.
The person concerned should always observe the prescribed dosage and regular intake in order to relieve the symptoms permanently and correctly. If anything is unclear or if you have any questions, always consult a doctor first. Furthermore, those affected by Wilson’s disease are always dependent on regular checks and examinations by a doctor. If there should be a surgical intervention in the life of the person concerned, the illness must be mentioned in any case.
You can do that yourself
People who suffer from Wilson’s disease must primarily change their diet. The aim of the treatment is to remove the copper from the body. This is achieved through an appropriate diet that is rich in driving substances. Typical digestive aids such as bananas and asparagus have proven effective, as have special diuretic teas from the drugstore. In general, sufferers should drink a lot, ideally mineral water, herbal teas or spritzers.
Accompanying this, medication must be taken that binds the copper. These chelating agents can cause various side effects and interactions, which is why a doctor should be consulted regularly during therapy.
If severe liver damage is already present, a liver transplant is necessary. After such an operation, the person concerned needs rest and bed rest. Regular visits to the doctor are also required here. Drug treatment is usually also necessary. The therapy must be regularly adapted to the respective constitution of the patient.
Since a severe course also represents an enormous psychological burden, the affected person usually needs therapeutic support. If desired, the psychologist can also put you in touch with other sufferers or a self-help group and thus support the patient in dealing with the illness.