Wilson disease

What is it?

Wilson disease is an inherited condition in which the body cannot get rid of the copper it does not need. We all need a little copper from food, but too much is poisonous. Normally the liver sends spare copper into bile, a fluid that carries it out through the gut. In Wilson disease a faulty ATP7B gene means less copper leaves this way, so it builds up in the liver, brain, eyes and other organs and damages them.

It is present from birth, but signs only appear once enough copper has built up. They usually start between 6 and 45 years of age, most often in the teenage years, though they have been found in babies of 9 months and in people over 70. It is rare: about 1 in 30,000 people, although a UK genetic study suggests the gene changes may be more common than that. Anyone can get it; it is seen more often in people of eastern European, Sicilian and southern Italian descent.

It runs in families. You get it only if you inherit a faulty copy of the gene from both parents. Parents with one faulty copy are carriers and usually have no signs; when both parents are carriers, each child has a 1 in 4 chance of having the disease.

The first signs

Some people have no signs before they are diagnosed. In children and young people, liver problems usually come first; in people diagnosed later, problems with the nerves or mood often come first.

• yellow skin or whites of the eyes (jaundice), tiredness, poor appetite, feeling sick, and a swollen belly;
• dark pee and pale poo, or pain in the upper belly over the liver;
• shaking, clumsiness, stiff muscles, or trouble walking, speaking or swallowing;
• anxiety, depression, mood swings, or changes in personality or behaviour;
• a green, golden or brownish ring around the coloured part of the eye (a Kayser-Fleischer ring).

Copper can also cause a type of anaemia called haemolytic anaemia, bone and joint problems, heart problems and kidney stones. The eye ring is found in more than 9 in 10 people who have nerve symptoms, but only in 5 or 6 in 10 of those with liver symptoms alone.

How doctors find out

Your doctor asks about your symptoms and about Wilson disease in your family, and examines you for signs of liver damage, such as a large liver or spleen, a swollen belly or swollen legs. A doctor looks at your eyes with a special light (a slit lamp) to find the copper ring. Blood tests check ceruloplasmin, a protein that carries copper and is often low, as well as copper, the liver and the blood count. You may collect all your pee for 24 hours in a special copper-free container, because the copper in it is often high.

If these tests do not settle it, a genetic blood test for the faulty gene can help, or a liver biopsy, in which small pieces of liver are taken to measure the copper. People with nerve symptoms may have an MRI or CT scan of the brain.

Jelenlegi kezelés

Lifelong copper-removing medicines or zinc

Will it get worse?

Without treatment, yes: copper keeps building up and can cause organ damage that is life-threatening, mainly liver failure and harm to the brain and nerves. Even when it is not fatal, the symptoms can be disabling. By the time they are diagnosed, about 35 to 45 in 100 people already have scarring of the liver (cirrhosis), and about 5 in 100 have sudden liver failure. In many cases, treatment can improve or prevent symptoms and organ damage, and early treatment can reduce or prevent organ damage.

Medicines: what helps, and what to watch for

Medicines remove the extra copper and stop it building up again. Chelating medicines, penicillamine and trientine, bind copper so the body passes it out in the urine. Zinc stops the gut taking in copper; doctors may use it to keep copper down after chelation, and for people who do not yet have signs. When treatment starts, doses of chelating medicines are raised slowly; once copper is at a safe level, lower doses may be used. Vitamin E may also be used.

Good to know:

• treatment is for life: stopping it can cause sudden liver failure;
• regular blood and urine tests show how well the treatment is working;
• penicillamine causes side effects more often than trientine, such as fever, rash, kidney problems or problems with the bone marrow, and vitamin B6 may be advised alongside it;
• when chelating medicines are started, nerve symptoms sometimes get worse;
• the most common side effect of zinc is an upset stomach;
• chelating medicines can slow wound healing, so the dose may be lowered before a planned operation.

Diet and exercise help too

At the start of treatment you may be advised to eat less copper. Once treatment has lowered your copper levels and maintenance treatment starts, your doctor can say whether you can safely eat moderate amounts of these foods again.

• foods high in copper include chocolate, liver, mushrooms, nuts, shellfish and dried fruit;
• water that sits in copper pipes can pick up copper, so well water or water from copper plumbing can be tested, the tap run before use, or a filter or distilled water used;
• copper pots and pans are best avoided;
• some vitamins and other supplements contain copper;
• exercise or physical therapy can help with the symptoms.

A liver transplant, for some people

Doctors treat Wilson disease with medicines. When the liver is badly damaged, either by sudden liver failure or by liver failure after cirrhosis, a liver transplant may be needed. In most cases a transplant cures Wilson disease. Other problems from cirrhosis may be treated with medicines, surgery or other procedures.

Is there a cure?

Lifelong treatment is needed to control Wilson disease. A liver transplant cures Wilson disease in most cases. Newer medicines are being studied that may avoid the effect on the nerves that penicillamine and similar medicines can sometimes have.

See the 29 trials you can join

Források

Written in plain words by Frontlight from these pages:

1. NIDDK (NIH): Definition & Facts of Wilson Disease
2. MedlinePlus: Wilson disease: MedlinePlus Genetics
3. NIDDK (NIH): Treatment of Wilson Disease
4. MedlinePlus: Wilson disease (Medical Encyclopedia)
5. NIDDK (NIH): Symptoms & Causes of Wilson Disease
6. NIDDK (NIH): Diagnosis of Wilson Disease
7. NIDDK (NIH): Eating, Diet, & Nutrition for Wilson Disease