Wilson’s disease, also known as hepatolenticular degeneration and progressive lenticular degeneration, is a rare genetic disorder that causes copper poisoning in the body. It affects about 1 in 30,000 people worldwide.
In a healthy body, the liver filters out excess copper and releases it through urine. With Wilson’s disease, the liver cannot remove the extra copper properly. The extra copper then builds up in organs such as the brain, liver, and eyes.
The symptoms of Wilson’s disease vary. Wilson’s disease is present at birth, but the symptoms don’t appear until the copper builds up in the liver, the brain or other organs.
▪︎ Liver symptoms
People with Wilson’s disease may develop symptoms of hepatitis, or inflammation of the liver. In some cases, people develop these symptoms when they have acute liver failure. These symptoms may include:
• Feeling tired.
• Nausea and vomiting.
• Poor appetite.
• Pain over your liver, in the upper part of your abdomen.
• Darker colored pee.
• Lighter colored poop.
• A yellowish tint to the whites of your eyes and skin, called jaundice.
Some people with Wilson’s disease have symptoms only if they develop chronic liver disease and complications from cirrhosis. These symptoms may include:
• Feeling tired or weak.
• Losing weight without trying.
• Bloating from a buildup of fluid in your abdomen, called ascites.
• Swelling of the lower legs, ankles or feet, called edema.
• Itchy skin.
▪︎ Nervous system and mental health symptoms
People with Wilson’s disease may develop nervous system and mental health symptoms after copper builds up in their bodies. These symptoms are more common in adults but sometimes occur in children. Nervous system symptoms may include:
• Problems with speech, swallowing or physical coordination.
• Stiff muscles.
• Tremors or uncontrolled movements.
▪︎ Eye symptoms
Many people with Wilson’s disease have Kayser-Fleischer rings, which are greenish, gold or brownish rings around the edge of the corneas. A buildup of copper in the eyes causes Kayser-Fleischer rings. A doctor can see these rings during a special eye exam called a slit-lamp exam.
Among people who have nervous system symptoms of Wilson’s disease, more than 9 out of 10 have Kayser-Fleischer rings. However, among people who have only liver symptoms, 5 or 6 out of 10 have Kayser-Fleischer rings.
▪︎ Other symptoms and health problems
Wilson’s disease can affect other parts of your body and cause symptoms or health problems, including:
• A type of anemia called hemolytic anemia.
• Bone and joint problems, such as arthritis or osteoporosis.
• Heart problems, such as cardiomyopathy.
• Kidney problems, such as renal tubular acidosis and kidney stones.
A mutation in the ATP7B gene, which codes for copper transportation, causes Wilson’s disease. You must inherit the gene from both parents in order to have Wilson’s disease. This can mean that one of your parents has the condition or carries the gene.
The gene can skip a generation, so you may want to look further than your parents or take a genetic test.
Untreated, Wilson’s disease can be fatal. Serious complications include –
• Scarring of the liver (cirrhosis).
As liver cells try to make repairs to damage done by excess copper, scar tissue forms in the liver, making it more difficult for the liver to function.
• Liver failure.
This can occur suddenly (acute liver failure), or it can develop slowly over years. A liver transplant might be a treatment option.
• Persistent neurological problems.
Tremors, involuntary muscle movements, clumsy gait and speech difficulties usually improve with treatment for Wilson’s disease. However, some people have persistent neurological difficulty despite treatment.
• Kidney problems.
Wilson’s disease can damage the kidneys, leading to problems such as kidney stones and an abnormal number of amino acids excreted in the urine.
• Psychological problems.
These might include personality changes, depression, irritability, bipolar disorder or psychosis.
• Blood problems.
These might include destruction of red blood cells (hemolysis) leading to anemia and jaundice.
If Wilson’s disease is suspected, it can be diagnosed by various tests:
• A blood test to measure caeruloplasmin. This is a protein that binds copper in the bloodstream. The level is low in nearly all people with Wilson’s disease.
• Other blood tests may also be performed. These may be done to measure your copper levels and to test your kidney and liver function.
• A urine test to measure the amount of copper in the urine. This is usually tested on all the urine you produce over a 24-hour period. The amount is typically higher than normal.
• An examination of the layer at the front of the eye (called the cornea) by an optician (optometrist) or an eye specialist may show the Kayser-Fleischer rings if they have developed. (They are not present in all cases.)
• A small sample (biopsy) of the liver may be taken to look at under the microscope. This can show the excess copper in the liver and the extent of any scarring of the liver (cirrhosis). See the separate leaflet called Liver Biopsy for more details.
• Your specialist may also request other tests – for example, a magnetic resonance imaging (MRI) scan of your brain and your kidneys.
If Wilson’s disease is confirmed then your brothers and sisters should be checked to see if they have the condition. Brothers and sisters of a person with Wilson’s disease have a 1 in 4 chance of also having the condition.
Your doctor might recommend medications called chelating agents, which bind copper and then prompt your organs to release the copper into your bloodstream. The copper is then filtered by your kidneys and released into your urine.
Treatment then focuses on preventing copper from building up again. For severe liver damage, a liver transplant might be necessary.
If you take medications for Wilson’s disease, treatment is lifelong. Medications include:
• Penicillamine (Cuprimine, Depen).
A chelating agent, penicillamine can cause serious side effects, including skin and kidney problems, bone marrow suppression, and worsening of neurological symptoms. Penicillamine should be used cautiously if you have a penicillin allergy. It also keeps vitamin B-6 (pyridoxine) from working, so you’ll need to take a supplement in small doses.
• Trientine (Syprine).
Trientine works much like penicillamine but tends to cause fewer side effects. Still, neurological symptoms can worsen when taking trientine.
• Zinc acetate (Galzin).
This medication prevents your body from absorbing copper from the food you eat. It is typically used as maintenance therapy to prevent copper from building up again after treatment with penicillamine or trientine.
Zinc acetate might be used as primary therapy if you can’t take penicillamine or trientine. Zinc acetate can cause stomach upset.
Your doctor might also recommend other medications for symptom relief.
If your liver damage is severe, you might need a liver transplant. During a liver transplant, a surgeon removes your diseased liver and replaces it with a healthy liver from a donor.
Most transplanted livers come from donors who have died. But in some cases a liver can come from a living donor, such as a family member. In that case, the surgeon removes your diseased liver and replaces it with a portion of the donor’s liver.
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