Wilson's disease is a rare but potentially life-threatening genetic disorder that affects about one in 30,000 people in the United States. The average age of diagnosis is between 12 and 23 years old. It occurs when copper builds up within the body and isn't properly eliminated.
Definition & Facts
Wilson's disease is caused by genetic factors. The body requires a small amount of copper to survive. However, in the body of a Wilson's patient, the copper levels build to toxic levels and are dangerous. When copper builds up in the blood, it slowly poisons the body.
Normally, the liver removes excess copper from the body, processing and releasing the mineral into bile to be removed by way of the gastrointestinal tract. The liver in those with Wilson's disease does not function normally.
Excessive copper build-up occurs in the eyes, brain, liver, and other organs. These high copper levels can be life-threatening and eventually cause organ damage and death. The hallmark sign of too much copper in the body is the presence of copper-colored rings around the eyes called Kayser–Fleischer rings.
Wilson's disease affects both men and women at equal rates. The most common age range for a diagnosis is between 5 and 35, but there are cases where a diagnosis may be made as young as 3 years of age, and as old as 72 years old. If one or both parents have been diagnosed with this condition, the likelihood of the child having it increases dramatically.
Symptoms & Complaints
- Weakness, nausea, vomiting, unexplained weight loss, jaundice, and fatigue.
- Anxiety, depression, psychosis, tremors, speech problems, and hallucinations.
- low white blood cell count
- High levels of amino acids and uric acids
- Carbohydrates in urine
- Copper rings around the eyes
Wilson's disease occurs when the Wilson disease protein (also called ATP7B gene) is affected. A change in this gene causes the disruption of copper elimination in the body. Wilson's disease is labeled as an autosomal recessive genetic disorder, and the child must inherit the gene from both parents to increase the probability of developing this condition. Overall, there is a one in four chance that a child will have the genetic mutation.
If only one parent has the gene, the child will be a genetic carrier, which means he or she can pass the disease onto the next generation without actually being affected. Due to the availability of genetic testing, a parent can identify if they are a carrier of the mutated gene long before they decide to have children.
Diagnosis & Tests
To accurately diagnosis a condition of Wilson's disease, a practitioner will first ask about the patient's family history. Genetic testing is a great way to get answers when there is a known family history. Some tests that should be expected are a physical examination, blood tests, urine testing, liver tests, and imaging tests.
Many of the symptoms that patients experience with Wilson's disease are also hallmarks for other diseases. The physical examination will look at the patient's body and see if the Kayser-Fleischer rings that circle the eye are present. A slit lamp is used to see the rings, as they are not always visible to the naked eye.
The blood tests will look for liver abnormalities as well as check the levels of copper in the blood. The copper levels in the blood are lowered when someone has this condition, as they are depositing into the organs and not circulating.
The ceruloplasmin level is often lower than normal too. Copper is eliminated through the urine, so a 24-hour collection is a good way to see increased copper elimination. If all other testing efforts have failed, a liver biopsy is considered. A piece of the liver can identify signs of damage due to the disease.
Treatment & Therapy
Medications can help reduce copper levels. Chelating agents are used to flush copper from the body. These are used at the beginning of treatment and not efficient for a severe case. While effective, they can cause side effects like kidney problems, rashes, and fever.
Zinc is an option to use after a chelating agent has been taken. It blocks the digestive system's ability to absorb copper from foods. There are really no side effects with taking zinc, other than an upset stomach. Zinc is known for its ability to thwart symptoms from emerging and to stop or slow disease progression.
Using medications, many people with Wilson's disease are able to manage their symptoms and prevent organ damage, though when all else fails, liver transplantation may be a last resort. Diet can also reduce the copper levels in the blood. Avoiding foods with high levels of copper include shellfish, mushrooms, and chocolate.
Prevention & Prophylaxis