Like hemochromatosis, Wilson’s disease is a condition caused by a genetic disorder. This condition involves an excess copper buildup in the liver, brain, eyes, and other organs. About one in 40,000 people are affected by Wilson’s disease, and it affects men and women equally. Most people are diagnosed before age 40, but symptoms can emerge as soon as age five.
The symptoms begin when copper starts to interfere with normal function. If the liver is affected, there is swelling, abdominal pain, jaundice (yellowing of the skin), and other signs of liver disease (swollen feet, easy bruising). When copper accumulates in the brain, it can cause tremors or uncontrolled movements, difficulty speaking, swallowing or other physical problems, and behavioral changes. Excess copper in the eyes causes Kayser-Fleischer rings, dark rings that appear to encircle the iris of the eye. Copper can also cause anemia (low red blood cell levels) arthritis (joint pains), and even premature osteoporosis (weak bones).
Diagnosis and Treatment
If you believe that you have signs and symptoms of Wilson’s Disease, you should contact your primary care physician and make an appointment with a hepatologist if indicated by the initial tests. Physical examination and laboratory tests are used to for the initial diagnosis of Wilson’s Disease. An ophthalmologist looks for the Kayser-Fleischer rings using special equipment. Laboratory tests are used to detect copper in the blood and urine, and to determine whether there is any damage to the liver. If there are signs of liver damage, then a liver biopsy is performed to examine the liver cells under a microscope. Since Wilson’s Disease is a genetic disorder, it is recommended that family members of patients with Wilson's disease are screened for the condition as well.
Treatment of Wilson’s disease is a lifelong process of managing copper levels in the body. There are medications that reduce the amount of copper absorbed by the body. Patients with Wilson's disease should also adjust their diets, after being diagnosed, to reduce the amount of copper consumed.
At New York Methodist, the team providing comprehensive care for patients with Wilson’s disease includes hepatologists, nutritionists, opthalmologists and others.
Find a physician specializing in the treatment of liver diseases here.
To contact the Division of Gastroenterology, call 718.780.3851.