Wilson's disease explained

What goes wrong in Wilson's disease

We all take in small amounts of copper from food, and the liver normally removes any excess, mostly by passing it into bile so it leaves the body in the stool. In Wilson's disease, an inherited fault in a gene means the liver cannot get rid of copper properly. As a result, copper slowly accumulates, first in the liver and then, once the liver is overloaded, in other organs — especially the brain, but also the eyes and elsewhere. Copper in excess is toxic to tissues, which is what causes the damage. Because the build-up is gradual, symptoms often do not appear until childhood, the teenage years or early adulthood. The key point is that this is a treatable condition: removing and controlling the excess copper can prevent or limit harm.

How it is inherited

Wilson's disease is passed on in what doctors call an autosomal recessive way. This means a person needs to inherit a faulty copy of the gene from both parents to develop the condition. People who carry just one faulty copy are called carriers; they usually have no symptoms but can pass the gene on. When both parents are carriers, each of their children has a one in four chance of having the condition. Because it runs in families, when one person is diagnosed, close relatives — particularly brothers and sisters — are offered screening, since they may have the condition without yet showing symptoms. Finding and treating it early, before damage occurs, gives the best outcome, which is why family testing is so valuable.

Symptoms and how it is diagnosed

The symptoms depend on where copper has built up. Liver problems can range from mild abnormal blood tests to jaundice, or in some cases more serious liver disease. When the brain is affected, there can be tremor, difficulty with speech or coordination, changes in movement, or changes in mood and behaviour. A characteristic sign is a coppery-brown ring at the edge of the coloured part of the eye, seen by an eye specialist. Diagnosis usually needs a specialist and combines several clues: blood tests for copper and a copper-carrying protein, a urine test measuring copper over twenty-four hours, an eye examination, and sometimes a liver biopsy or genetic testing. Bringing these together confirms the diagnosis, because no single test is enough on its own.

Treatment for life

Wilson's disease is treated for life, and treatment is usually very effective when started early and taken consistently. The main approach uses medicines that either help the body remove excess copper or reduce how much copper is absorbed from food; a specialist chooses and adjusts these for each person and monitors the response with regular blood and urine tests. People are also advised to limit foods that are especially high in copper, such as liver, shellfish, nuts and chocolate, particularly early in treatment. Stopping treatment, even when feeling well, is dangerous and can allow copper to build up again and cause serious harm, so lifelong adherence is essential. In the small number of people who develop severe liver failure, a liver transplant can be life-saving and can effectively correct the underlying copper problem.

Living with Wilson's disease

With early diagnosis and steady treatment, most people with Wilson's disease can lead full and healthy lives. Living well means taking medicines exactly as prescribed, never stopping without medical advice, and attending regular specialist reviews so treatment can be fine-tuned and any problems caught early. Following dietary advice, being cautious with copper-rich foods and, where relevant, checking that drinking water is not high in copper, all support treatment. Because the condition is inherited, genetic counselling can help people understand the risk to children and relatives and arrange family screening. Support with any speech, movement or mood difficulties, and information for family members, are part of good care. The overriding message is hopeful: Wilson's disease is one of the treatable inherited conditions when it is found and managed early.