What exactly is Wilson’s disease?

Unless you have Wilson’s disease, or you know someone who does, you’ve probably never heard of this rare genetic condition. With non-specific symptoms that mainly affect the brain and the liver, this slippery condition is tricky to diagnose, and it can have serious complications if left untreated.

Curious? Check out this gallery to learn all about Wilson’s disease.

Genetic disease

Wilson’s disease is a congenital condition that causes excess copper to build up in the body. It’s caused by a mutation in the ATP7B gene, and it mainly affects the brain and the liver.

Incidence

Wilson’s disease is rare: it is estimated to affect one in every 30,000 people. However, if left untreated, this condition can cause life-threatening damage to a person’s organs.

Onset of symptoms

The symptoms of Wilson’s disease vary from person to person, and so does the timing of their onset. In general, people start to present with symptoms between the ages of five and 40.

Difficult to diagnose

Because the symptoms of Wilson’s disease are usually non-specific, this condition is often misdiagnosed until copper levels are actually measured.

The liver

People with Wilson’s disease often experience symptoms related to their liver. They can develop hepatitis (which is inflammation of the liver), or even go into acute liver failure.

Symptoms

If this happens, symptoms can include nausea and vomiting, pain in the abdomen just above the liver, and a yellow tint to the eyes and skin (otherwise known as jaundice).

Certain cases

In some cases, people with this condition will only present with liver symptoms if they develop chronic liver disease and complications from cirrhosis.

If this is the case, symptoms may include unexplained weight loss, swelling in the lower legs, feet, and abdomen (edema), and a buildup of fluid in the abdomen (ascites).

The central nervous system

People with Wilson’s disease may also present with central nervous system symptoms, such as problems with speech, stiff muscles, and tremors.

Symptoms that affect the central nervous system tend to be more common in adults with Wilson’s than in children (although it’s not impossible for kids to experience them, too).

Mental health

The central nervous system symptoms of Wilson’s can also affect a person’s mental health. They can cause anxiety, depression, psychosis, and even personality or behavior changes.

Eyes

Another telltale symptom of Wilson’s disease is Kayser-Fleischer rings, which are rings of green, gold, or brown that appear around the cornea of a person’s eyes.

Spotting Kayser-Fleischer rings

These are caused by a buildup of copper in the eyes, and they can be observed by a doctor using a specific eye test called a slit-lamp exam.

Other symptoms

In addition to causing symptoms in the liver, brain, and eyes, this condition can also affect other parts of the body, including the bones, heart, and kidneys.

Excess copper

As previously mentioned, Wilson’s disease is caused by a mutation in the gene responsible for removing excess copper from the body.

Recessive gene

The disease is genetic, but it is autosomal recessive, meaning that to have this disease a person must inherit two mutated genes, one from each parent

Carriers

Carriers of Wilson’s disease are people who inherit just one abnormal gene and therefore do not develop the condition, but can pass it on to their children.

Diagnosis

If your doctor or healthcare provider suspects you may have Wilson’s disease, they will first ask you some questions about your family and medical history.

Tests

If they suspect you have symptoms that could be caused by Wilson’s, they will then perform a combination of blood, urine, and genetic tests to confirm.

Treatment

The treatment for Wilson’s disease focuses on lowering the toxic levels of copper in your body in order to prevent organ damage.

Chelating agents

In the first instance, doctors may use chelating agents, such as penicillamine and trientine, to directly remove excess copper from the body.

Maintenance treatment

Once the amount of copper in the body is back down to a safe level, they may then prescribe a lower dose of chelating agents as a maintenance treatment.

Indeed, a lifelong maintenance treatment with chelating agents can prevent the copper from building back up again to a dangerous level.

Surgery patients

Since chelating agents can interfere with the body’s ability to heal wounds, doctors may prescribe a lower dose to people who are scheduled to have surgery.

Treatment with zinc

Another option for maintenance treatment is zinc, which prevents the intestines from absorbing copper.

Side effects

Doctors also use this to treat people who have been diagnosed with Wilson’s but who do not yet have symptoms. The most common side effect of zinc is an upset stomach.

Dietary changes

Your doctor or healthcare professional may recommend that you avoid certain foods that are high in copper, such as liver, shellfish, chocolate, mushrooms, and nuts.

Checking water

It is also a good idea to check whether your tap water comes from a well or runs through copper pipes. If so, have the copper levels of the water checked.

Filtering water

If copper levels in your water are too high, you may need to use a water filter to remove the copper before you drink it.

In summary

Wilson’s disease is serious, and it can cause complications. However, if it’s diagnosed early, proper treatment can lower the chance of someone developing side effects.

Sources: (Cleveland Clinic) (National Institute of Diabetes and Digestive and Kidney Diseases)