Wilson’s Disease

What is Wilson’s Disease?

Wilson’s disease is a genetic disorder and an inherited disease. This is a rare condition that primarily affects the liver and the brain. It is a defect in the body that causes an excessive amount of copper to accumulate in those organs, causing numerous health problems and issues. The corneas of the eyes are also affected by this copper accumulation.

Copper enters the body through various food sources and small amounts of copper in the body are considered normal. However, when the body is unable to process the copper and get excess amounts out of the body, it is poisonous. People who inherit this condition generally begin to show symptoms during the teen years and early to mid twenties. It can start causing damage to the liver and body during earlier childhood, though.

Wilson’s disease is inherited through an autosomal recessive inheritance pattern. This means that both parents have to be carriers of the gene mutation. There is a 25 percent chance of suffering from the condition if both parents are carriers. The specific gene mutation that causes Wilson’s disease is a mutation to the ATP7B gene.

What are the Symptoms of Wilson’s Disease?

Abdominal pain is a common symptom of Wilson’s disease. A person with serious liver damage from this condition can turn jaundice, meaning their skin and the whites of their eyes can turn yellowish. Easy bruising and fluid buildup that causes swelling in the limbs and abdomen can also occur due to liver-related issue of Wilson’s disease. Other symptoms that relate to the liver include nausea, vomiting, a loss of appetite, and general weakness or fatigue.

There are also symptoms that relate to the effects Wilson’s disease has on the brain. These symptoms can include confusion, personality changes, depression and anxiousness, speech problems, and coordination issues. People often suffer from muscle stiffness and uncontrollable twitching or muscle spasms as well.

Wilson’s Disease Causes

Wilson’s disease occurs when the human body is retaining and taking in too much copper. Copper is collected in the brain, kidneys, eyes, and liver. Affected organs no longer operate in the correct manner after this diagnosis.

Wilson’s disease is caused by a transmutation in the ATP7B gene, which controls the coding of copper transports in the human body. An individual would need to inherit this gene from both of their parents to be diagnosed with Wilson’s disease. This diagnosis is an autosomal recessive feature, which means that one defective gene must be inherited from both the mother and the father. When both parents have an abnormal gene, their children will have a 25% chance of also having the disorder.

It is possible for people to receive just one abnormal gene. Individuals with just one abnormal gene will become a carrier for the disease and can pass it on to their children, but they will not become ill themselves. It is important to keep in mind that the gene has the ability to skip a generation; it may be beneficial in some cases to take a genetic test or find out if grandparents had the gene.

Any demographic may experience Wilson’s disease; however, it is more common in Sicilians, eastern Europeans, and southern Italians.

How is Wilson’s Disease Treated?

Since Wilson’s disease is a condition caused by a gene mutation, it is not curable.

However, it can be treated. Medications can be prescribed to reduce the concentration of copper in the body. These medications bond with copper molecules so that more copper leaves the body through the urine than it would otherwise. Most likely, a person with Wilson’s disease will need to take such medications for the rest of their life.

They will also need to be very careful about their diet and avoid foods high in copper and eating foods low in copper. If the liver is severely damaged, a transplant may be necessary. Nervous system symptoms may not be reversible even with treatments and might require the person to receive long-term care and supervision, especially for impairments and confusion.

Wilson’s Disease Prevention

While Wilson’s disease cannot be prevented, the onset of the condition can be delayed.

Symptoms can be improved with minerals or vitamins such as zinc. To determine the potential risk of passing the gene on to their children, it is important to seek the help of a genetic specialist. Genetic counseling should always be included in pregnancy planning for those who have a history of Wilson’s disease.

Genetic counseling can help to estimate the genetic risk for each specific case and can help people understand more about inheritance. It is important to involve the help of an expert when determining future courses of action in regards to family health and well-being. Genetic counselors help people gain a better understanding of what can be expected in the future for their unique situation.

Last Reviewed:
October 11, 2016
Last Updated:
October 23, 2017