Wilson disease

Mareike Müller is a freelance writer in the medical department and assistant doctor for neurosurgery in Düsseldorf. She studied human medicine in Magdeburg and gained a lot of practical medical experience during her stays abroad on four different continents.

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Wilson's disease (copper storage disease) is a hereditary disease.Due to a genetic defect, copper is not excreted sufficiently and accumulates in the body. Those affected mainly suffer from liver damage and movement disorders. If left untreated, Wilson's disease leads to death. With the right and timely treatment, patients can become symptom-free. Read more about the symptoms, diagnosis and treatment of Wilson's disease here.

Wilson disease: description

Wilson's disease is also known as copper storage disease. The name goes back to the doctor Samuel Wilson, who first described the symptoms and their causes. In this hereditary disease, there is a change (mutation) in a gene (carrier of the genetic material) that triggers the disease. Wilson's disease only occurs if the mutation is present in both parents.

Wilson disease: frequency and occurrence

About one person in 30,000 has Wilson disease. Doctors estimate that there are many sufferers who go undiagnosed with the disease. The first symptoms show up in patients between the ages of five and 45 years old, with most noticing the first signs between the ages of 13 and 24. From the age of six, symptoms of the liver mainly appear, while symptoms of the nervous system only appear from the age of ten.

Wilson disease: symptoms

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

Jaundice (jaundice)
Enlargement of the liver
stomach pain
Liver failure

The damage to the nervous system occurs because the copper is deposited in the brain in places that control movement processes. Neurological symptoms in Wilson's disease can include:

Involuntary tremors
Stiffness of muscles
Slowed movements
Speech and writing disorders
Psychological abnormalities such as depression or personality changes

In addition, copper deposits can be detected in the eye. Many patients have a so-called Kayser-Fleischer corneal ring - a copper-colored discoloration of the cornea around the iris.

Wilson's disease patients often suffer from anemia, especially when the liver fails. This breaks down the blood (hemolysis). This anemia can be life threatening.

The function of the kidneys is rarely disturbed or cardiac arrhythmias or muscle weakness occur.

Wilson disease: causes and risk factors

The cause of Wilson's disease is a genetic change (mutation). This can only cause Wilson disease if it is inherited from both parents. The mutation is passed on from generation to generation. Siblings of sick people have a 25 percent chance of being affected as well. Patients' children get sick in about 0.5 percent of cases.

Wilson 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 in the bile and stores it in the liver. This is only possible to a limited extent, the liver becomes inflamed and the copper is washed into the blood. It also reaches the brain, where it is deposited in the so-called basal ganglia - areas that are responsible for the sequence of movements. The kidneys also excrete more copper in the urine.

Wilson's disease: examinations and diagnosis

In order to diagnose Wilson's disease, the doctor asks you in detail about the medical history (anamnesis). He asks the following questions, among others:

Does a family member have Wilson's disease?
Do you feel tired and exhausted?
Do you have difficulty performing movements in a targeted manner?
Are your hands shaking uncontrollably?
Have you noticed yellow discoloration of the skin?

The doctor will then scan your abdomen and perform an ultrasound scan of the abdomen (abdominal ultrasound) to determine any changes in the liver. He will also assess your neurological performance based on your gait pattern or special exercises (for example, "bring your fingers to your nose").

The doctor uses blood tests to check values that indicate liver damage or that have a direct effect on the copper - such as the amount of free copper in the blood.

Wilson's disease: examinations by specialists

The ophthalmologist examines your eye with what is known as a 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 rules out that neurological symptoms - such as movement disorders - are caused by other diseases of the brain. Two years after the diagnosis of Wilson's disease, another MRI is done, then at regular intervals of four to six years. If neurological symptoms suddenly change, the doctor will immediately order another MRI.

Wilson Disease: Family Examination

When a person is diagnosed with Wilson's disease, the doctor creates a family tree. In this way it can be found out whether and which family members could carry the changed gene. If a child is suspected of having Wilson's disease, they will be examined around the age of four or five.

Wilson disease: treatment

The pathologically altered Wilson disease gene cannot be treated directly. Medicines should therefore keep the amounts of copper in the body stable. There are two different drug groups available for this:

Chelating agents (complexing agents)
zinc

Chelating agents are drugs that bind the copper present in the body. So it can be excreted more easily. In the case of Wilson's disease, active ingredients such as trientine or D-penicillamine are used for this. Zinc ensures that less copper is absorbed in the intestine.

At the beginning of the therapy, the chelating agents should smuggle more copper out of the body than is absorbed. If there are still no symptoms or if the copper level has stabilized after taking chelating agents, the therapy is switched to zinc. Combinations of the preparations are also possible; the dose is adjusted accordingly for pregnant women.

Wilson Disease: What You Can Do By Yourself

If you have Wilson's disease, make sure you eat a low-copper diet. This alone is not sufficient, but it does support drug treatment. You should therefore remove foods with a high copper content such as crustaceans, offal, raisins, nuts or cocoa from your menu.

Check your water pipes as they contain copper in some households and can pollute tap water.

Wilson's disease: when medication doesn't help

Without treatment, as well as during therapy for Wilson's disease, the liver of those affected can be severely damaged by the copper and threaten to fail. Then the doctor can administer the copper-binding protein albumin through a vein (infusion). Peritoneal dialysis can also be used to remove excess copper from the body.

These measures often bridge the time until a liver transplant, which is usually the only life-saving measure. After liver transplantation, patients do not need to take any medication to treat Wilson's disease, but they do need to take medication to stabilize the donor liver. The modified gene only affects 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 detected in good time and treated for life, the prognosis is good. If left untreated, the disease persists and the damage increases over time. In many patients, Wilson disease does not progress with treatment, and in some, damage even regresses. Without proper treatment, Wilson's disease is fatal within four to six years. The patients die of both the severe liver damage and the severe neurological impairments.