What is Wilson's disease?
Copper is a vital trace element. You need about 1.5 to 2 milligrams of this daily, which you take in with your food. The metal is mainly found in offal, fish, shellfish, nuts, cocoa and some green vegetables. Some spices, such as basil, marjoram, nutmeg and pepper, contain relatively high amounts of it.
Copper performs a variety of functions in the body. Among other things, it is:
- involved in cell growth,
- is partly responsible for the absorption of iron in the gastrointestinal tract,
- is involved in theformationof hemoglobin in red blood cells,
- responsible for the development of hair, bones and skin and
- Component of numerous enzymes.
The proportion in the body is around 70 to 150 milligrams. Copper is mainly found in the skeleton, but also in the muscles, liver and brain.
If you suffer from Wilson’s disease, your body cannot excrete excess copper via the bile. This increases the copper content of the liver until the organ’s storage capacity is finally exhausted. The trace element then accumulates in other organs – such as the brain, eyes or kidneys. There it has a toxic (poisonous) effect and damages cells. This causes various symptoms – depending on which organ accumulates how much copper and how far the disease has progressed.
Wilson’s disease is a rare disease and is genetically determined. On average, 1 in 30,000 inhabitants suffers from the hereditary disease. In Switzerland, there are around 285 people affected. However, far more people carry the defective gene: around 1 in 90 people have a single copy of the gene. This means that a person does not develop Wilson’s disease, but can pass the genetic defect on to their children.
The disease is named after the British neurologist Samuel Alexander Kinnier Wilson. He first described the symptoms, which occur more frequently in some families, in 1912. At that time, however, it was not yet known that the cause was a disorder of the copper metabolism.
Wilson's disease: causes and risk factors
People with Wilson’s disease store excess copper in various organs. The metal causes damage there. Those who carry the genetic defect responsible for the hereditary disease inherit it autosomal recessively. This means that the person does not suffer from Wilson’s disease themselves, but can pass it on. Only if both parents have the genetic defect do they pass it on to their child, who then has a 25 percent chance of developing the disease.
It was not until 1993 that researchers were able to prove that the ATP7B gene (the so-called Wilson gene) causes the condition. This gene, located on chromosome 13, serves as a blueprint for the Wilson protein, which plays an important role in copper metabolism.
However, it is not always the same genetic defect that triggers Wilson’s disease – over 350 different mutations are now known for the Wilson gene. The large number of possible mutation sites is partly responsible for the fact that genetic tests for the diagnosis of Wilson syndrome are usually only carried out if there have already been confirmed cases of the disease in the family.
In small quantities, copper is essential for your body, i.e. it is vital. It is needed, for example, for the formation of nerve cells, bones, skin and connective tissue. You take in around two to five milligrams a day with your food. What your body does not need, it excretes again. But this process does not work if you suffer from Wilson’s disease. While the bile of healthy people excretes around two milligrams of copper every day, the amount excreted by people with Wilson’s disease is only around 0.2 to 0.4 milligrams. As a result, more and more copper accumulates in their liver cells and impairs liver function.
Symptoms: The liver in particular suffers
Wilson’s disease shows symptoms for the first time between the ages of five and 45, but more frequently between the ages of 13 and 24. Liver damage is always one of the consequences, even in very young patients. Neurological diseases are also at the forefront of the condition. They affect four out of ten people and become apparent after the age of ten.
Initially, copper storage disease usually manifests itself through unspecific symptoms:
- You feel tired and exhausted.
- Your appetite suffers.
- You often have stomach ache.
Which other symptoms appear depends on the organs in which copper has mainly accumulated (e.g. liver, brain, eyes, kidneys) and how far the disease has already progressed. This often leads to
- Liver damage,
- neurological complaints,
- Changes to the eyes
Other complaints:
- Jaundice, i.e. yellow coloration of the skin and mucous membranes
- Tendency to bruise
- Edema, i.e. fluid in the legs or abdomen
- Neurological problems, such as:
- Swallowing disorders
- Problems with speaking
- Impaired body coordination
- Trembling and uncontrolled muscle movements
- Muscle stiffness
- Changes to the eyes, such as:
- Kayser-Fleischer corneal ring: A brownish ring forms around the outer edge of the iris due to copper deposits in the cornea.
- Sunflower cataract: Copper is deposited in the lens of the eye.
- Kidney problems, such as:
- Protein detectable in the urine (proteinuria)
- Kidney stones
- psychological changes, such as
- Impaired ability to pay attention or concentrate
- Mood swings
- Depression
Complications due to Wilson’s disease
If copper storage disease is not detected and treated, it can lead to complications:
- Liver cirrhosis: The copper deposits cause tissue damage in the liver. The organ tries to repair this tissue damage. This causes it to scar and harden, which impairs its function in the long term.
- Liver failure (hepatic insufficiency): Failure of the liver can develop over years or occur suddenly. If it is already very advanced, the organ may be damaged to such an extent that a transplant is necessary.
- Neurological problems: Even despite treatment, neurological symptoms can occur or be exacerbated by the medication.
- Kidney disease: Copper storage disease can affect the kidneys. Occurring problems are kidney stones or a high concentration of amino acids in the urine.
- Psychological impairments: Wilson’s disease can also damage the psyche. The consequences are:
- Changes in personality
- Depression
- Bipolar disorders
- Psychoses
Wilson’s disease: Diagnosis with us
As copper storage disease usually begins with rather unspecific symptoms, it is difficult to diagnose. It often takes some time before we recognize them.
Various studies provide indications.
- Blood test: We will check your liver values, the copper content of the blood and the coeruloplasmin content
- Urine tests: He can have the copper content measured in the 24-hour urine collection.
- Eye examinations: An examination of your eyes will show whether copper has been deposited in the cornea, the Kayser-Fleischer corneal ring, or in your lens, causing the so-called sunflower cataract.
- Liver biopsy: By taking a tissue sample from the liver with a fine needle, we can determine whether it has stored copper.
- Genetic tests: They are expensive and are only carried out if there are already confirmed cases of copper storage disease in your family.
- Imaging procedures: Magnetic resonance imaging or sonography can reveal organ changes.
Wilson's disease: prevention, early detection, progression
You cannot prevent the hereditary disease Wilson’s disease. If there are already affected family members, their siblings and children should be genetically tested for Wilson’s disease. This is because the earlier the disease is detected, the earlier treatment can begin – this may even prevent the disease from breaking out with symptoms.
If copper storage disease is detected early, it can be treated effectively: If it is diagnosed before the disease breaks out, (lifelong) therapy will prevent you from developing symptoms.
If symptoms already exist, copper-regulating therapy usually resolves them completely (with the exception of liver damage). You can lead a normal life with it – provided you take the medication reliably throughout your life.
Without treatment, Wilson’s disease progresses continuously. The growing copper deposits cause more and more defects in the body until they finally become life-threatening after around four to eight years.
Self-help groups
The exchange with people who are affected by the same disease can be a great support in coping with the disease. Advice on finding a suitable self-help group is available from Selbsthilfe Zürich. Self-Help Zurich and the University Hospital Zurich are cooperation partners in the national project “Health literacy thanks to self-help-friendly hospitals”.
Wilson's disease: therapy via medication and diet
If you have Wilson’s disease, you will need to take medication throughout your life to prevent the potentially fatal consequences of the disease. In addition, your doctor should test your blood and urine levels every six months or more frequently at the start of treatment.
The treatment of Wilson’s disease has two objectives:
- Removing copper deposits from the body
- Reduce the intake of the metal through food