Wilson’s disease is a metabolic disease that is hereditary and uncommon. There is an accumulation of copper, including in the liver. The disease is present from birth, but the first symptoms often occur much later, between the ages of ten and thirty. Wilson’s disease occurs in approximately one in thirty thousand people. What causes the metabolic disease, what are the symptoms and what are the options for treatment?
- Wilson’s disease
- Cause and heredity of Wilson’s disease
- Other names used for Wilson’s disease
- Information, laboratory research
- Do not confuse Wilson’s disease with Mowat-Wilson syndrome
The liver is a very important organ, we cannot do without it. The liver has several functions, including absorbing nutrients from the blood, which are used for various processes. Furthermore, toxins are neutralized in the liver and waste products are cleared by the organ. The liver is located in the upper right abdomen, near (behind) the ribs.
The disease was discovered in 1905 by Dr. Wilson. It is an inherited metabolic disease that is uncommon. In Wilson’s disease, copper accumulates in the body, including in the liver . The body needs copper to work properly. We consume small amounts of copper every day through our diet. The copper is absorbed into the body through the intestinal wall and if there is too much, it is removed from the body by the liver, together with bile fluid. Copper absorption and excretion must be in balance, but this is not the case with Wilson’s disease. The excess copper is not secreted and accumulates in certain organs including the liver, brain and eyes. This means that the organs cannot function properly.
Cause and heredity of Wilson’s disease
Someone with Wilson’s disease lacks a certain enzyme (ceruloplasmin) that plays a role in the processing of copper. This leads to copper accumulation. Wilson’s disease occurs in both boys and girls (slightly more often in boys) and is recessively hereditary. Both the father and mother must be carriers of the gene that causes Wilson’s disease. If you are a carrier, you do not have the disease because in addition to the gene that is abnormal, you also have a gene that is healthy. If someone receives the abnormal gene from both their father and mother, she or he will develop Wilson’s disease. Wilson’s disease is caused by an error on chromosome 13, the location where the error is located: ATP7B gene.
Other names used for Wilson’s disease
- Copper storage disease
- Wilson’s disease
- Copper storage disease
- Hepatolenticular degeneration (hepato=liver, lenticular=abnormalities of the lens, degeneration: gradually decreasing function)
- Hepatolenticular degeneration syndrome
Wilson’s disease is already present at birth, but the first symptoms usually only occur between the ages of ten and thirty. This is because copper accumulation is a very slow process. But the symptoms can also start at a younger age or only in adulthood. The symptoms can be divided into symptoms that occur due to copper accumulation in the liver and symptoms that occur due to copper accumulation in the brain. Problems with the liver often arise at a younger age than problems with the brain.
- Copper overload in the liver : the abdomen may become thicker (enlarged liver), sometimes red palms, jaundice, inflammation of the liver (hepatitis: acute or chronic), anemia. In very severe cases: liver cirrhosis. The damage caused by liver cirrhosis cannot be repaired.
- Copper overload in the brain : muscle tension may be increased, muscle cramps, difficulty walking, involuntary movements, difficulty concentrating, shaking. What is usually noticeable is that someone has difficulty writing , the handwriting becomes different. Even more serious: speech disorders, the brain can become affected and this can lead to hallucinations, and personality changes can also occur. Someone can become angry more quickly, impulsive behavior, sadness, and self-injury can occur.
- Kayser-Fleischer ring : this is one of the first visible phenomena (sometimes visible to the naked eye): a pigment ring that is brown-green in color and fine-grained (precipitated copper). The ring is located in the cornea (eye) and is common in people with Wilson’s disease. Vision is not affected by this pigment ring. A small proportion of people with Wilson’s disease experience clouding of the lens of the eye or night blindness. These abnormalities of the eye can cause difficulties with vision.
- Nearly three quarters of people with Wilson’s disease have skeletal abnormalities . You should think of osteoarthritis, bone fractures, osteoporosis.
- Some people with Wilson’s disease experience an enlarged spleen.
- Furthermore, fatigue, dystonia (arms, legs, trunk, neck may be in an abnormal position), chorea (fluid, twisting movements), epilepsy, kidney problems, blue moon-shaped discolorations on the nails may occur .
Symptoms such as the ring in the eye, malfunctioning of the liver, a deterioration in walking and talking can lead a doctor to suspect Wilson’s disease. However, sadness can also be the first symptom to appear. Blood tests may be performed (copper will be increased, ceruloplasmin decreased). Furthermore, the urine can be examined for the amount of copper. An MRI scan can be made: in Wilson’s disease, abnormalities are often seen in both hemispheres, in the basal nuclei, brain stem and cerebellum. An image reminiscent of the head of a panda can be seen near the brain stem (affected areas are white, unaffected areas are black). The ophthalmologist can see the Kayser-Fleischer ring (in the iris of the eye). The ring may also be present in other liver diseases (but not in combination with neurological symptoms). Not every person with Wilson’s disease has the ring. A piece of tissue from the liver can be removed for examination (for copper) and the cerebrospinal fluid can be examined (for copper). The diagnosis can be confirmed by DNA testing . If it is known during pregnancy that the baby may have Wilson’s disease, prenatal testing can be done.
Healing is not possible, the damage caused by Wilson’s disease cannot be undone. But treatment is very important to prevent new symptoms as much as possible. Attempts are made to suppress symptoms and it is also important that the person suffering from Wilson’s disease learns to deal with this as best as possible. A low-copper diet can be prescribed by the doctor, which must then be followed for the rest of life. In addition to a diet, medications will be prescribed that can bind copper and in this way the copper can leave the body. Furthermore, physiotherapy, occupational therapy, speech therapy can be used. The stiffness of the muscles can be reduced with medication, but seizures of epilepsy should be prevented as much as possible with medication. If eating and drinking are no longer possible, a tube may be necessary. If Wilson’s disease is discovered at a late stage and the liver is already severely damaged, liver transplantation may be an option.
It is very important that the diagnosis is made early in the process. The sooner treatment is given, the fewer symptoms will occur and the more favorable the future expectations . If the disease is discovered in time and treatment is successful, life expectancy is normal. Liver function disorders can shorten life expectancy.
Information, laboratory research
You can request information from various authorities such as the Dutch Liver Patients Association, Stomach Liver Intestine Foundation, EuroWilson. Laboratory research into hereditary metabolic diseases takes place at the UMC Utrecht. A special area of interest is the study of hereditary diseases in copper metabolism (Wilson’s disease, Menkes’ disease).
Do not confuse Wilson’s disease with Mowat-Wilson syndrome
Mowat-Wilson syndrome is a congenital, hereditary condition. Various parts of the body are affected. There are appearance features that stand out (square face, the nose is wide, the chin stands out, the lower lip is thick), a delay in motor skills and an intellectual disability.
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