Wilson disease is a genetic disease where body cannot remove the extra copper. The body needs copper in small amount. Extra copper or too much of it is poisonous. The liver is responsible for carrying extra copper out. However, in Wilson’s disease, it build up in the liver, kidneys, brain, and other vital organs.
Since it is a genetic disease, it is present at birth, but the symptoms occur between 5-35 years of age.
The cause of the Wilson’s disease is inheritance of two copies of a defective gene ATP7B, from each parent. If there is only one defective gene inherited, then the person is considered a carrier. The chance of a child inheriting this defective gene from both parents is 25%, or one in four.
The symptoms of Wilson’s disease show up when the level of copper if higher and when an organ is being affected. The symptoms vary depending on the organs affected. As this disease usually affects the liver, the central nervous system, or both, or the kidneys, the symptoms include:
- Easy bruising
- Lack of appetite
- central nervous system-related symptoms, for e.g. uncontrolled movement
- mental health-related symptoms, for e.g. speech problems
The risk factor in Wilson’s disease is when both parents have this defective gene. With genetic testing, it can be discovered if you have this disease. Early diagnosis proved successful treatment.
Complications of the Wilson’s disease can arise if the disease is not treated. Those are:
- cirrhosis—scarring of the liver
- kidney damage—as liver function decreases, the kidneys may be damaged
- persistent nervous system problems
- liver cancer—hepatocellular carcinoma is a type of liver cancer in people with cirrhosis
- liver failure—a condition in which the liver stops working properly
- death, if left untreated
Wilson’s disease cannot be prevented. If there has been a history of this disease in the family, then genetic testing should be performed. Genetic testing is a procedure that identifies changes in a patient’s genes and can show whether a parent or child is a carrier of a mutated gene. These mutations are not necessarily present in every generation.