Wilson’s Disease is a rare and inherited condition that causes copper to build up in the liver, the brain, and other vital organs of the body. Many people who are diagnosed with this condition are diagnosed early when they are children. However, some people do not show symptoms until their mid-30s. Copper is important for the development and support of nerves, bones, collagen, and melanin in the body. When too much copper builds up in the body, life-threatening health issues can occur.
The symptoms of this condition can begin at birth, but usually, it takes some years for copper to build up in the body. Children as young as five might be diagnosed when they begin to show symptoms. Symptoms include:
This condition is caused by an autosomal recessive trait. This means that patients can develop this condition even if only one parent carries the recessive gene. The risk factors for this condition are having parents or a sibling that has the condition. You should consider undergoing genetic testing if you have family members with this disease to ensure early treatment.
Diagnosis of Wilson’s Disease can be difficult because the signs and symptoms can mimic many other conditions. Symptoms also tend to develop slowly over time which can make it hard to see a pattern in the various concerns that patients are reporting. If you have a family history of Wilson’s Disease, you will be more likely to be diagnosed with the condition in the early stages.
Blood and urine tests can help to show liver function as well as copper levels in the blood. Eye exams can look for Kayser-Fleischer rings which are caused by excess copper in the eyes. There is also a kind of cataract that is specifically associated with this condition called a sunflower cataract.
Liver tissue biopsies can also be instructive if the patient is showing liver health issues. As mentioned before, genetic testing can reveal that patients with a family history of the condition do carry the genes to express symptoms of the disease.
Some patients can manage the symptoms of Wilson’s Disease through the use of chelating agents, which are used to bind copper in the organs and the blood so they can be removed from the body through the urine. Patients with severe liver damage might require a liver transplant, but when the condition is caught in the early stages, this is typically not necessary.
Patients with Wilson’s Disease will need to avoid foods that contain high levels of copper, such as liver, shellfish, mushrooms, nuts, and chocolate. They might also be instructed to avoid taking multivitamins which contain high levels of copper in most cases.
It is not usually possible to prevent this condition. If you are able to get genetic testing to confirm that you can start expressing symptoms of the condition, you might be able to start preventive measures and care early enough to greatly reduce your risk of suffering from the complications of this disease. Make sure to ask your doctor about this option if you have family members who have Wilson’s Disease.