Wilson's Disease is a genetic disorder that is fatal unless detected and treated before serious illness from copper poisoning develops. Wilson's Disease affects approximately one in 30,000 people worldwide. The genetic defect causes excessive copper accumulation in the liver or brain.
Small amounts of copper are as essential as vitamins. Copper is present in most foods, and most people have much more copper than they need. Healthy people excrete copper they don't need but Wilson's Disease patients cannot.
Copper begins to accumulate immediately after birth. Excess copper attacks the liver or brain, resulting in hepatitis, psychiatric, or neurologic symptoms. The symptoms usually appear in late adolescence. Patients may have jaundice, abdominal swelling, vomiting of blood, and abdominal pain. They may have tremors and difficulty walking, talking and swallowing. They may develop all degrees of mental illness including homicidal or suicidal behavior, depression, and aggression. Women may have menstrual irregularities, absent periods, infertility, or multiple miscarriages. No matter how the disease begins, it is always fatal if it is not diagnosed and treated.
The first part of the body that copper affects is the liver. In about half of Wilson's Disease patients the liver is the only affected organ. The initial physical changes in the liver are only visible under the microscope. When hepatitis develops, patients are often thought to have infectious hepatitis or infectious mononucleosis when they actually have Wilson's Disease hepatitis. Testing for Wilson's Disease should be performed in individuals with unexplained, abnormal liver tests.
Wilson's Disease is a very treatable condition. With proper therapy, disease progress can be halted and oftentimes symptoms can be improved. Treatment is aimed at removing excess accumulated copper and preventing its reaccumulation. Therapy must be lifelong. Patients may become progressively more sick from day to day, so immediate treatment can be critical. Treatment delays may cause irreversible damage.
The newest FDA-approved drug is zinc acetate (Galzin™). Zinc acts by blocking the absorption of copper in the intestinal tract. This action both depletes accumulated copper and prevents its reaccumulation. Zinc's effectiveness has been shown by more than 30 years of considerable experience overseas. A major advantage of zinc therapy is its lack of side effects.
Other drugs approved for use in Wilson's Disease include penicillamine (Cuprimine, Depen) and trientine (Syprine). Both of these drugs act by chelation or binding of copper, causing its increased urinary excretion.
Tetrathiomolybdate is another chelating drug that is under investigation for initial treatment of Wilson's Disease. Thus far, it has not caused the neurological worsening often associated with penicillamine and even with trientine.
Patients with severe hepatitis or liver failure may require liver transplant. Patients being investigated or treated for Wilson's Disease should be cared for by specialists in Wilson's Disease or by specialists in consultation with their primary physicians.
Stopping treatment completely will result in death, sometimes as quickly as within three months. Decreasing dosage of medications also can result in unnecessary disease progression.