Wilson disease is a disease of the liver associated with increased levels of copper. In Wilson disease, the liver does not properly release copper into bile the way that it normally should. Remember that bile is a liquid produced by the liver that helps with the digestion of fats.
Similar to hereditary hemochromatosis, which is a disease of increased iron absorption, Wilson disease is a disorder associated with increased absorption of copper from food. Copper then builds up in the liver and other tissue resulting in organ injury. Eventually, the excess of copper that builds up in the liver is released directly into the blood stream carrying it throughout the blood to other organs. Excess of copper will lead to damage to the eyes, brain, and kidneys. In untreated cases, severe brain injury, liver failure, and death can occur.
Symptoms of Wilson disease can occur between age 5 and 25 years old though can be seen in patients over 40. Careful examination of a patient’s eye will reveal Kayser Fleischer rings, which is a brown ring around the cornea of the eye that can only be seen during a detailed eye exam. The diagnosis of Wilson disease is made through blood tests that measure the amount of copper in the blood, urine, and liver. An eye exam, as noted above, can detect the Kayser-Fleischer ring. A protein in the blood called ceruloplasmin is decreased in Wilson Disease and in the right clinical setting, this abnormal test can confirm the diagnosis.
The treatment for Wilson disease is removal of copper from the body. One of the most common medications is D-penicillamine or trientine hydrochloride. Additionally, zinc acetate, which stops the intestine from absorbing copper, will also promote copper excretion.
In patients that have Wilson disease, lifelong treatment is required. Wilson disease is a condition that when more serious conditions developed may result in the need for liver transplantation.