Wilson’s Disease: When Copper is the Culprit; by Tetyana Pravytska

Copper is a naturally occurring element and can be found in various diets. Chocolate, liver, nuts and shellfish contain it in abundance. A great amount of copper in certain foods makes many cell’s processes work better. Mitochondria- ‘the cell’s power station’-use it for energy production. Bones, tendons, muscles, and cartilage need this element for the formation of specific protein called collagen. Copper also works together with iron to build red cells.

However, copper could be an a culprit for the body, if it does not excrete properly, and many organs gradually build it up. Its excess happens due to genetic reasons in some people. To be precise, 1 in 30 000 is born with the difficulty to clear unneeded copper. In 1912, Samuel Kinnier Wilson first described the symptoms of the medical condition, and since then it has been known as Wilson’s disease.

What experiences do people have when they are challenged by this medical condition?

When the child with genetic abnormality reaches the age of 8 years, liver problems might be a concern. This is because, the liver is usually the primarily affected site. In the most typical cases, yellowish skin , abdominal pain and sickness are the main symptoms that show liver involvement. Untreated disease might seriously worsen the liver health and lead to neurological problems.

The onset of neurological issues suggests that copper has already built up in the brain. It usually happens in later life – between 14 and 40 years. The first symptoms are concentration difficulties, low mood and the changes in personality. In addition, coordination, walking and difficulty with fine movements become evident as the disease progresses. An excessive amount of copper in the brain also relates to swallowing and speech problems. Vision, hearing and sensation are usually normal.

Apart from the liver and the brain, an overload of copper might damages the kidneys. A neurologist might see a ring of greenish- brown copper colouring during the eye examination. But all these are less likely to be present.

Previously mentioned symptoms are very disturbing to those who have the medical condition and their families. So, how can medical professionals change their lives for the better?

The story began when several enthusiastic researchers discovered a real potential of substance called penicillamine. Without any financial help from multi-national pharmaceutical companies, they began testing it on animals. In human trials, after a single test dose , harmful copper was expelled from the body of a patient with Wilson’s disease. It started the era of conquering the disease.

At the moment, several drugs are on a market to treat this medical condition. Let us, in succession, see what they are. And what are the recommendations of European Association for the Study of the Liver for Wilson’s disease?

Penicillamine is a very effective and long-life taken drug. It brings benefits especially in the patient with liver involvement. A doctor usually prescribes penicillamine with the supplement of vitamin B6 to prevent the loss of essential vitamin . Although it is relatively safe and should not be withdrawn in pregnancy, penicillamine is not always tolerated by patients . Those patients who have additional neurological problems, it might worsen symptoms. It is always essential to know the side-effects for prompt actions. Diarrhoea, skin rash, and more serious – fever, unusual bleeding and kidney problems are reported.

If you can not take penicillamine due to its side-effects, a doctor might recommend trientine. In some cases, trientine might be prescribed as first line therapy. Unwanted side-effects include nausea, skin rash and very rarely anaemia. Trientine also interferes with iron causing its deficiency.

Zinc is different from penicillamine and trientine. It works binding copper from the stomach so that copper does not enter the blood. Stomach upset and less commonly anaemia are reported as its side-effects. Current guidelines say that zinc should be used as a maintenance treatment or first-line therapy for patients with neurological problems.

Researchers found that vitamin E has a positive effect on the course of Wilson’s disease. It is also true that if you avoid certain foods in a diet (oysters, liver, whole grain breads and cereals, shellfish, dark green leafy vegetables, dried legumes, nuts, and chocolate). When the disease advances , liver transplantation is a life-saving option.

With currently available treatment, Wilson’s disease can be successfully controlled, and, therefore, you can lead normal, both mentally and physically, life. What is more, there is hope that the future gene therapy will help fully conquer the disease, and copper will not be the culprit any more.