What causes Wilson’s disease?
Wilson’s disease is caused by inheritance of abnormal copies of the ATP7B gene from both parents. This occurs in about 1 in 40,000 people, affecting men and women equally. Diagnosis is usually made before the age of 30.
What are symptoms of Wilson’s disease?
Patients with Wilson’s disease may present with symptoms of liver disease, eye problems, kidney problems, osteoporosis, behavioral, or psychiatric changes. Copper usually accumulates in the liver first, causing symptoms of fatigue, yellowing of the eyes or skin, swelling of the legs, swelling of the abdomen, and easy bruising. If there is copper build-up in the brain, patients may have problems with speech, difficulty swallowing, poor coordination, stiffness, or personality changes. Eye changes include a brown pigment around the cornea, referred to as Kayser-Fleischer rings.
How is Wilson’s disease diagnosed?
Diagnosis of Wilson’s disease may be made through physical exam and lab testing. Patients may initially present with elevated liver tests or signs of liver disease. If there is suspicion for Wilson’s disease, copper levels are often checked in the blood, urine, or liver. Most patients will have low ceruloplasmin in the blood and elevated copper levels in the urine. A 24 hour urine test will also show increased copper. Routine eye exam may also reveal Kayser-Fleischer rings. Copper build-up is also seen on liver biopsy.
How is Wilson’s disease treated?
The goal of treatment is to reduce excess copper and prevent copper build-up in the future. Medicines such as d-penicillamine (Cuprimine®) and trientene hydrochloride(Syprine®)are often prescribed to reduce copper build-up in the organs. Zinc is often given to block the digestive tract from absorbing copper from food. Patients are also instructed to avoid foods that contain a large amount of copper. These include liver, shellfish, nuts, chocolate, mushrooms, organ meats, dried peas and beans, dried fruit, bran, and avocados.
What is the long-term outcome?
With early diagnosis and treatment, most patients will have a normal life expectancy. Those who present in later stages may have problems related to liver damage or cirrhosis and sometimes require a liver transplant. Seeking medical treatment for Wilson’s disease is important. If left untreated, Wilson’s disease is always fatal.