A rare inherited disorder that causes copper build-up in different body organs (such as the liver, brain, and eyes) is called Wilson’s disease. This condition is mostly diagnosed in people between 5 and 35 years old but it can negatively affect younger and older people as well.
People usually get copper from foods and it is vital in building healthy bones, collagen, skin pigment melanin, and nerves. However, if you have extra copper, the liver makes a substance (bile) that removes it.
However, in people with this inherited disorder, the copper is not removed and it begins to build up. Moreover, this is a life-threatening condition without treatment but with early diagnosis, many people have treated this disease and continue to live normal lives.
Symptoms
Although the disease is present at birth symptoms may not occur at the same time. Commonly, symptoms start when copper builds up in the liver, eyes, brain, or other organs. The symptoms often occur differently among people with Wilson’s disease because it depends on the body part is affected. Check below some of them:
- Loss of appetite
- Tiredness
- Jaundice (yellowing of the eyes and skin)
- Kayser-Fleischer rings (golden-brown or copper-colored rings around the irises)
- Fluid buildup that occurs usually in the legs or stomach area
- People with Wilson’s disease may also experience problems with swallowing, coordination, and speech
- Mental disorders (including depression, personality changes, and mood swings)
- Sleeping disturbances
- Uncontrolled movements
- Muscles stiffness
If you notice any of the previous symptoms, it is recommended to visit a doctor right away.
Causes
This health condition occurs when biological children receive the abnormal gene from both biological parents. If only one parent has this gene, children will not develop Wilson’s disease. However, you will be a carrier and the abnormal gene can pass to your children.
Risk Factors
People with a family history of Wilson’s disease are at increased risk of developing this condition. Discuss with your healthcare professional about genetic testing. If the condition is detected early it increases the chances of successful treatment.
What are the Possible Complications of Wilson’s Disease?
If you ignore the symptoms and do not get treatment for this condition, you may experience the following complications. Examples include:
- Cirrhosis – This is a liver disease in which scarring of the tissue occurs. As a result, it reduces liver function significantly.
- Liver failure – In severe cases, people may experience liver failure that happens suddenly usually. It is also known as acute liver failure or decompensated Wilson’s disease. Sometimes, liver failure may come slowly over time. In such cases, the only way to treat this condition is a liver transplant.
- Nervous system problems – While some people notice improvements in the symptoms (such as clumsy walking and involuntary muscle movements) with treatment, others may experience nervous system problems even after the disease is treated.
- Kidney issues – This disease can damage the kidneys and lead to certain problems including kidney stones, an abnormal number of amino acids removed in the urine, and others.
- Mental disorders – For example psychosis, bipolar disorder, personality changes, depression, irritability, and others.
- Blood problems – For example destruction of the red blood cells (hemolysis), anemia, jaundice, and others.
Diagnosis
In most cases, it is difficult to diagnose this condition because it causes symptoms similar to other liver conditions (such as hepatitis). However, behavioral changes that appear gradually can also be difficult to link with Wilson’s disease. So, doctors diagnose this condition usually based on different tests and symptoms you experience. Check below some procedures and tests done by doctors to diagnose this disease:
- Urine and blood tests – These tests can show liver function and protein levels (ceruloplasmin) that bind copper in the blood. Levels of copper in the blood can also be measured using these tests. Urine tests also help determine the amount of copper removed during 24 hours.
- Eye examination – Doctors perform this procedure using a microscope with high-intensity light to check for Keyser-Fleischer rings. Additionally, a type of cataract (called sunflower cataract) is also associated with Wilson’s disease and can be identified during an eye examination.
- Biopsy – During this procedure, doctors take a small sample of the liver and send it to the laboratory to check for high copper levels.
- Genetic testing – To determine the gene that causes Wilson’s disease, you need to do a genetic test.
Treatment
If you have an increased copper level somewhere in the body, doctors usually recommend certain medications called copper-chelating agents. These drugs attach to the copper and help release it into the bloodstream. Thereafter, it is filtered by the kidneys and removed from the body. The treatment goal is to stop the buildup of copper in the body. Check below some examples of medicines used to treat this condition:
Medicines
Usually, the medicines used to remove extra copper from the body should be used entire life. For example:
- Penicillamine – This is a copper-chelating agent that can cause serious adverse reactions including skin and kidney problems, and worsening of nervous system problems. Rarely, it may lead to bone marrow suppression. It is advised to use carefully this medicine if you have an allergy to Penicillin. Penicillamine also interacts with vitamin B6, which prevents it from working. Therefore, people who get Penicillamine require small doses of vitamin B6.
- Trientine – This medication works similarly to Penicillamine but causes fewer adverse reactions. However, nervous system symptoms still can be worse if you administer this medicine.
- Zinc acetate – This is a specific medication that helps to stop the body from absorbing copper from foods. In most cases, doctors recommend this medicine after using previous medicines. Furthermore, Zinc acetate can be used as a primary treatment after therapy to remove extra copper from the body in people who cannot take Penicillamine or Trientine.
Surgery
For people with serious liver damage, a transplant of the liver is the only treatment available. During this surgery, doctors will remove damaged liver parts and replace them with healthy ones. In most cases, liver transplant happens from donors who have died. Sometimes, the liver can come from a live donor such as a family member.
Frequently Asked Questions
What are foods that contain high copper amounts?
Healthcare providers usually recommend avoiding the following foods if you experience Wilson’s disease. For example:
- Shellfish
- Liver
- Mushrooms
- Nuts
- Chocolate
What is the life expectancy in people with Wilson’s disease?
If you do not get treatment for this condition, the life expectancy is roughly 40 years but with early diagnosis and proper treatment, the previous life span can increase.
What health conditions are commonly mistaken for Wilson’s disease?
These include acute liver failure (caused by hepatitis viruses or drugs/toxins), fatty liver disease (caused by obesity), alcoholic liver disease, and others. If you have additional questions, ask your healthcare professional.
