What is Wilson’s Disease?

Wilson disease is where the body cannot get rid of excess copper in its system and is a genetic disorder. It allows copper levels in the body to rise, affecting many organs, and can be life threatening.

Causes

When the body cannot filter copper through the body, the buildup causes Wilson’s Disease. There appears to be a genetic mutation of the ATP7B gene where copper cannot be released by a normal rate through the liver. The storage capacity exceeded, it overflows into the blood and into the other organs in the body. Genetically, a person with Wilson’s Disease will have two flawed copies of the ATP7B gene, as one copy allows the person to be a carrier of the disease but show no signs of the condition.

Statistics

While it affects men and women equally, it will generally affect people between 5 years of age and 35. Cases have been seen in as young as two and as old as 72 years of age. One in 40,000 gets this condition, according to a 2001 edition of Annals of Human Genetics.

Signs and Symptoms

Copper buildup manifests itself in the following symptoms: liver swelling, spleen swelling, jaundice, fatigue, bruising easily, leg fluid buildup, abdomen fluid buildup, muscle stiffness, behavior changes, tremors, speech issues, swallowing problems, and coordination problems. Other signs can be anemia, low white blood cell count, slow clotting, premature arthritis, premature osteoporosis, high levels of carbohydrates in urine, high levels of uric acid and protein in urine, and high levels of amino acids in urine.

Diagnosis

Lab testing and a physical exam can show higher amounts of copper in the blood and urine. This can result in a 24 hour urine collection test where they will test again for copper levels. There may be genetic testing done as well.

Treatment

Wilson’s Disease treatment is for drug therapy to reduce the amounts of copper and treat any and all liver damage from the high amounts of copper. After reducing copper levels and helping the liver damage, the maintenance therapy is for zinc to be added to the diet and other drugs. There will be monitoring of the blood and urine.

A chronic condition that can be controlled, Wilson’s disease is easily treated and can have great prognosis when detected early.

Source: NIH Publication No. 08-4684, May 2009


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