WILSON'S DISEASE

Proper Name:

Hepatolenticular Degeneration

Common Name:

Wilson's Disease

Age of Onset:

Most cases of Wilson's disease develop in children between the ages of six and twenty, although there have been reported cases of much older patients.

Duration:

Once the disease sets in, it will not go away naturally. The patient is unable to release excess copper, and it will continue to build up in the body, specifically in the liver and brain (basal ganglia) until the patient dies.

Males/Females/Race:

Sex does not affect one's chances of developing Wilson's because it is an autosomal recessive disease. Both sexes have an equal chance! However, one study showed that women are more likely to be carriers. This would be explained if female sex hormones aggravates either the body's inability to absorb copper or progressive liver failure, as the researchers concluded they might. The gene responsible for the disorder seems to have originated in central Europe; therefore Westerners are more likely to develop the disease than, say, Asian populations.

Cause:

Wilson's disease is caused by a defective gene responsible for coding the proteins necessary for absorbing copper. It is an autosomal recessive disease; many people are carriers for it and, if they marry someone else who is a carrier, have a 1/4 chance that they will pass it to a child.

Symptoms:

Since the excess copper accumulates in the liver and the brain, most people with Wilson's disease develop liver disease, and about half also develop psychological problems. Symptoms of liver disease include (but are not limited to) tiredness, increased bleeding, hypertension, enlargement of the spleen, accumulation of fluid in the abdominal cavity, cirrhosis (liver tissue being replaced by scar tissue), and, in the worst cases, liver failure. Liver failure means too much ammonia in the bloodstream, which hurts the brain and causes hepatic encephalopathy (or, "liver big-head-ness"). Psychological problems include depression, anxiety, a deviation from normal behavior, twitches, lack of coordination, and a slowing of normal activities (parkinsonism). Patients also suffer migraines. A tell-tale sign of Wilson's disease is something known as a Kayser-Fleischer ring, or an orange (copper-colored!) ring around the iris. This shows copper build up in the membrane of the cornea (pictured above). This sign is more common in those who suffer neurological problems. Wilson's disease can also lead to nephrocalcinosis, or a build-up of calcium in the kidneys. This is turn means there is less calcium in the bones--they weaken. Wilson's disease may also, in rare cases, cause the heart to beat irregularly (arrhythmia).

Prognosis:

As a genetic disorder, Wilson's is not curable unless the liver is transplanted, and this only happens in the most sever of cases. Otherwise, patients learn to live with their disorder by taking zinc supplements to keep copper from entering their liver and by avoiding foods high in copper, like chocolate.

Treatment Options:

Wilson's disease is treatable. Since it is a build-up of copper, the drugs used either stop copper from being absorbed or purge the body of its excess copper. One such drug is penicillamine. This drug causes the copper to be released through the patient's urine. However, many people develop lupus after taking this drug, and it only worsens the symptoms for those suffering neurological complications from Wilson's. Such patients are instead treated with trientine hypochloride. Once copper levels return to normal, doctors prescribe zinc supplements, which prevents copper from passing to the liver (and getting stuck there). The only total cure for Wilson's disease is a liver transplant, but this is only used in the most extreme cases (liver failure) because of the negative side-effects. Also, liver transplants do not help those with neurological problems.

Link: http://www.wilsonsdisease.org/