Wilson’s disease and copper

People with Wilson’s disease have too much copper in their body. Although we all need some copper, too much is poisonous. It damages the liver and other parts of the body in different ways and causes a range of health problems.

Usually your liver would control copper levels by adding it to bile, a fluid made by your liver which helps you digest food. As part of bile, the extra copper goes through your gut and your body gets rid of it in your poo.

In Wilson’s disease, a faulty gene (ATP7B) means you can’t make the protein responsible for adding copper to bile. So you can’t get rid of all the extra copper. And because you still take in copper from your diet, it builds up in your body.

Copper levels build up from birth, but this usually happens very slowly. It can take years or even decades before any symptoms develop.

How do high copper levels affect the body?

The first place extra copper is stored is in your liver cells. At high levels copper damages these cells and they die. This makes your liver inflamed and swollen, which is called hepatitis. If the inflammation lasts for a long time, your liver can also become scarred (fibrosis). This scarring can get more severe over time and lead to cirrhosis.

Cirrhosis is a very serious stage of liver disease. In compensated cirrhosis the liver can still do its jobs well enough. But if there is more scarring than there is healthy liver, then it can’t work properly. This is known as decompensated cirrhosis. Cirrhosis can lead to liver failure and liver cancer. Read more about cirrhosis and its complications.

If even more copper builds up and your liver can’t store it, it is carried to other parts of your body in your blood. Copper then starts to build up in places that don’t usually store copper, mainly the brain but also the eyes, kidneys, joints and heart.

Wilson’s disease affects more organs than the liver in about half of people with the condition. Depending where the copper builds up, it can cause different problems.

Copper building up in your brain and central nervous system can lead to confusion, physical tremors, and problems with coordination or clumsiness. The effects on the brain can lead to poorer performance at work or school and psychiatric illnesses.

Wilson’s disease can also affect how well your kidneys work. And can lead to weak, brittle bones (osteoporosis). Women may develop irregular periods, have problems with getting pregnant and may be more likely to have a miscarriage.

Wilson’s disease is caused by a faulty gene called ATP7B. Genes are the instructions that tell our body cells how to grow and what to do. They are passed on from parent to child. You have 2 copies of most of your genes, one inherited from each parent.

When genes are copied, mistakes can happen. A bit like making a spelling mistake if you are copying some writing. A lot of the time this doesn’t matter. But sometimes the mistake means the gene doesn’t work properly anymore – it is faulty.

In lots of genetic diseases, including Wilson’s disease, your body can manage with one healthy gene and one faulty one. So people can have a faulty gene and not know about it. These people are called carriers or heterozygotes. People who have either 2 faulty genes or 2 healthy genes are scientifically called homozygotes. Although Wilson’s disease is very rare, up to 1 in 100 people may carry a faulty copy of the gene.

People only develop Wilson’s disease if they have a faulty gene from both their mother and their father. The medical name for this is an autosomal recessive disorder.

Everyone has 2 copies of the gene, so there is a 50% (1 in 2) chance of a child inheriting 1 particular copy of a parent’s 2 genes. So you can work out the probability that 2 people will have a child who has Wilson’s disease, if one or both of them carry the faulty gene.

If both parents are carriers of the faulty gene (they both have one faulty and one healthy copy), on average each child has:

• a 25% (1 in 4) chance of inheriting 2 faulty genes and developing Wilson’s disease
• a 50% (2 in 4, which is the same as 1 in 2) chance of inheriting 1 faulty and 1 healthy gene and being a carrier like their parents
• a 25% (1 in 4) chance of inheriting 2 healthy genes

These chances are the same each time parents who are both carriers have a child. Already having a healthy child or a child with Wilson’s disease doesn’t affect the chances for any more children they have in the future.

Most people with Wilson’s disease have no family history of the disease. This is because it is usually inherited from parents who are carriers of the faulty gene and don’t have the disease themselves.

After being diagnosed with Wilson’s disease you will probably need to follow a low copper diet for a short time. This gives medicines that lower the amount of copper in your body time to work.

If the medicines are working well and your condition is stable, you probably won’t need to carry on following a strict low copper diet in the long term. Your doctor or dietitian will advise you on this.

In general, eating a well-balanced diet helps you and your liver stay healthy. Read more about what that means and what foods are good for you.

Try to drink distilled or ‘de-mineralised’ water rather than water from a tap that may have flowed through copper pipes. Water from a tap can be filtered – ask your doctor or dietitian about the best ways to do this.

Normally a person absorbs about 4mg of copper a day from their food and drink. But you may need to reduce this to less than 1mg a day. A low copper diet does not mean you have to totally avoid foods that contain copper. Many foods contain copper, so reducing how much you eat certain foods (rather than steering clear of them) is the most realistic way of getting the nutrients you need.

If you develop cirrhosis you may need to follow special diet advice. Read more about diet and cirrhosis.

Foods known to contain higher concentrations of copper include:

• shellfish such as scallops, oysters, crab, clams, prawns and mussels
• offal such as liver and liver pate, kidneys and heart
• cocoa powder and dark chocolate
• all nuts such as cashews, brazil nuts, walnuts and peanuts
• seeds such as sunflower and pumpkin
• candied or dried fruits such as cherries, raisins, dates and prunes
• wholegrain breakfast cereals such as bran and puffed wheat
• beans such as soya (edamame), butter beans, pinto beans and even baked beans
• soya products such as soya milk and tofu
• mushrooms.

The copper content in foods can also vary depending on things such as where the food was grown, how it was grown, and how it has been processed. Speak to a dietitan if you have any questions about the copper content of the foods you eat. You can also download a guide to the copper content of common foods eaten in the UK from the Wilson’s Disease Support Group UK website.

If you are being treated with D-penicillamine you might need weekly supplements of vitamin B. This is because D-penicillamine can increase your body’s need for vitamin B6 (pyridoxine). Ask your doctor if you need to take vitamin B supplements and if they can be prescribed or if you should buy them from a pharmacy.