Wilson’s disease

Wilson’s disease: description

Wilson’s disease is also referred to as a copper storage disease. The name goes back to the doctor Samuel Wilson, who first described the symptoms and their causes. In this hereditary disease is on a gene (carrier of the genome) before a change (mutation) before, which triggers the disease. Wilson’s disease only occurs when the mutation is present in both parents.

Wilson’s disease: frequency and incidence

About 30,000 people suffer from Wilson’s disease. Doctors estimate that there are many sufferers who are not diagnosed with the disease. The first symptoms appear in patients between the ages of five and 45, with most people between the ages of 13 and 24 showing the first signs. Above the age of six, liver problems are most common, while symptoms of the nervous system do not appear until the age of ten.

Wilson’s disease: symptoms

Studies show that all patients get liver damage during the course of the disease. In the process, the tissue of the liver gradually changes, and liver cirrhosis develops. The following symptoms are typical:

• Jaundice (jaundice)
• hepatomegaly
• stomach pain
• liver failure

The damage to the nervous system occurs because the copper in the brain deposits in places that control movement. Neurological symptoms in Wilson’s disease can be:

• Involuntary trembling
• Stiffness of the muscles
• Slowed movements
• Speech and writing disorders
• Mental disorders such as depression or personality changes

In addition, copper deposits can be detected on the eye. Many patients have a so-called Kayser-Fleischer-Kornealring – a copper-colored discoloration of the cornea of ​​the eye (cornea) around the iris (iris).

Especially with the onset of liver failure, patients with Wilson’s disease often suffer from anemia (anemia). The blood is decomposed (hemolysis). This anemia can be life threatening.

Rarely, the function of the kidneys is disturbed or occur arrhythmia or muscle weakness.

Wilson’s disease: causes and risk factors

The cause of Wilson’s disease is a genetic mutation. This can only trigger Wilson’s disease if it is inherited from both parents. The mutation is passed on from generation to generation. Siblings from sick people have a 25 percent chance of being affected as well. The children of patients fall ill in about 0.5 percent of the cases.

Wilson’s Disease: Why is so much copper stored?

The mutated Wilson gene can be altered in over 350 different ways. It is responsible for the formation of a protein that transports copper. If this protein is affected by the mutation, the body no longer excretes enough copper through the bile and increasingly stores it in the liver. This is only limited possible, the liver becomes inflamed and the copper is flushed into the blood. So it gets into the brain, where it deposits in the so-called basal ganglia – areas that are responsible for the movement. In addition, the kidney excretes more copper from the urine.

Wilson’s disease: examinations and diagnosis

To diagnose Wilson’s disease, the doctor interviews you in detail about the history of the disease (anamnesis). For this he asks the following questions:

• Is a family member suffering from Wilson’s disease?
• Do you feel tired and beaten?
• Do you have difficulties to execute movements specifically?
• Are your hands shaking uncontrollably?
• Have you noticed yellow discoloration of the skin?

The doctor then scans your abdomen and performs an abdominal ultrasound scan to detect any changes in the liver. In addition, he assesses your neurological performance based on your gait or specific exercises (for example, “finger to nose”).

With blood tests, the doctor controls values ​​that indicate liver damage or that directly affects copper, such as the amount of free copper in the blood.

Wilson’s disease: examinations at medical specialists

The ophthalmologist examines your eye with the so-called slit lamp. Light is radiated into the eye and the individual sections of the eye are assessed. The doctor can detect copper deposits in the cornea.

An MRI (Magnetic Resonance Imaging) scan of the head precludes neurological symptoms – such as movement disorders – from being triggered by other brain diseases. Two years after the diagnosis of Wilson’s disease, another MRI is performed, followed at regular intervals of four to six years. If neurological symptoms suddenly change, the doctor immediately initiates another MRI.

Wilson’s disease: examination of the family

If a person is diagnosed with Wilson’s disease, the doctor will create a family tree. In this way it can be found out whether and which family members could carry the altered gene in themselves. If a child is suspected of having Wilson’s disease, it will be examined at around the age of four or five.

Wilson’s disease: treatment

The morbidly altered Wilson’s disease gene can not be treated directly. Drugs should therefore keep the amounts of copper in the body stable. There are two different drug groups available:

• Chelating agent (complexing agent)
• zinc

Chelating agents are drugs that bind the copper in the body. This makes it easier to excrete. In Wilson’s disease, agents such as Trientine or D-penicillamine are used. Zinc ensures that less copper is absorbed in the intestine.

At the beginning of the therapy, the chelating agents should remove more copper from the body than is absorbed. If there are no symptoms or if the copper level has stabilized after taking chelating agents, the therapy is switched to zinc. Also combinations of the preparations are possible, in pregnant women the dose is adjusted accordingly.

Wilson’s disease: what you can do yourself

If you suffer from Wilson’s disease, look for a low-copper diet. This alone is not sufficient, but supports the drug treatment. Therefore, remove heavy foods containing copper such as crustaceans, offal, raisins, nuts or cocoa from your diet.

Check your water pipes, as they may contain copper in some households and may pollute the tap water.

Wilson’s disease: When medications do not help

Without treatment as well as during the therapy of Wilson’s disease, the liver of the affected person can be severely damaged by the copper and threaten to fail. Then the doctor can administer the copper-binding protein albumin via a vein (infusion). Peritoneal dialysis (peritoneal dialysis) also removes excess copper from the body.

These measures often bridge the time to liver transplantation, which is usually the only lifesaving measure. Patients do not need to take any medication to treat Wilson’s disease after liver transplantation, but they do need to stabilize donor liver. Because the changed gene has only effects on the formation of a protein in the liver, but not in other organs.

Wilson’s disease: disease course and prognosis

If Wilson’s disease is recognized early and treated for life, the prognosis is good. Untreated, the disease continues and the damage increases over time. In many patients, Wilson’s disease does not progress with treatment, with some even causing damage. Without the right treatment runs Wilson’s disease deadly within four to six years. Patients die from both severe liver damage and severe neurological impairments.