Weakening Wilson’s Disease

You feel tired and weak. You have jaundice on your eyes and skin. You have problems with your speech and you feel anxious. You could have Wilson’s disease.

Wilson’s disease is when your body has trouble absorbing excess copper, which is found in trace amounts in nature and in foods. In Wilson’s disease patients, copper accumulates gradually during the years in the liver and the brain. Those organs then become the sources of Wilson’s symptoms, which are insidious in onset.

In fact, Wilson’s disease seldom comes under suspicion before adolescence. The disease is not unusual; its victims’ bodies cannot get rid of copper, which piles up in the liver, brain and kidneys and the corneas of the eyes. In the liver, for example, the copper glut causes tissue damage. When it builds up in the brain, it can cause unsteadiness and writhing arm motions and tremors. It can lead to personality changes. A golden brown to green ring might form around the cornea (Kayser-Fleischer rings) , the normally crystal clear structure in front of the pupil.

Hepatitis as a result of liver storage might be the first recognizable Wilson’s event. The disease can be mistaken for schizophrenia or manic-depressive disorder.

According to the Cleveland Clinic, Wilson’s disease can affect other parts of the body and cause symptoms such as:

§  Hemolytic anemia.

§  Bone and joint problems (arthritis or osteoporosis).

§  Heart problems (cardiomyopathy).

§  Kidney problems (renal tubular acidosis or kidney stones).

A mutation of the ATP7B gene causes Wilson’s disease. This gene removes extra copper from the body. Typically, the liver releases extra copper into a fluid that’s then stored in your gallbladder to help digestion (bile). Bile carries copper, along with other toxins and waste products, out of the body through your digestive tract. If you have Wilson’s disease, your liver releases less copper into your bile, and, as a result, the extra copper stays in your body.

You can inherit the mutated ATP7B gene that causes Wilson’s disease. It is possible for the mutated gene to pass from parent to child. To get Wilson’s disease, the child has to inherit two abnormal genes, one from each parent (autosomal recessive).

People with one ATP7B gene without a mutation and one ATP7B gene with a mutation do not have Wilson’s disease, but they are carriers of the disease. This means that they can pass a normal gene, carrier state or disease state to their children, depending on the genetics of their partner.

In order to diagnose Wilson’s disease, your provider will ask for a complete medical history and family history to identify which symptoms could be the result of this condition.

Providers will examine you for other signs that tell them you have problems with your liver, brain or eyes. For example, during an eye examination, your provider will perform a slit-lamp exam, which looks for Kayser-Fleischer rings in the eyes. Your provider will perform blood and urine tests.

The diagnosis of Wilson’s disease is made using blood tests, urine tests, genetic testing or liver biopsy.

Treatment for Wilson’s disease focuses on lowering toxic levels of copper in your body and preventing organ damage and the symptoms you get when your organs aren’t functioning normally. Treatment includes:

§  Taking medicines that remove copper from the body (chelating agents, D-penicillamine, tetrathiomolybdate).

§  Taking zinc to prevent your intestines from absorbing copper.

§  Eating foods low in copper (avoiding foods like shellfish and dried fruits).

People with Wilson’s disease need lifelong treatment. Stopping treatment can cause acute liver failure. Your provider will perform blood and urine tests to check how the treatment is working.

While you can’t prevent Wilson’s disease, you may be able to ward it off. Talk to your provider about genetic counselling if you have a family history of the disease or think you may be able to pass it on to a child of your own.

It is important that you contact your healthcare provider if you suspect you may have Wilson’s disease because the life expectancy is short if left untreated.

With that said, early diagnosis and treatment of Wilson’s disease lead to the best outcomes for people with this condition. Make sure that your treatment regimen is successful at removing toxic copper levels from your body. The right treatment will improve your condition and avoid major complications.