Wilsons Disease

Description

An inherited disease that results in an abnormal accumulation of copper in the liver, brain and other organs. If left untreated the disorder can lead to liver failure (cirrhosis) and death. Copper is ingested in the foods that are eaten. Normally it is digested and processed in the liver and excreted in the bile into the intestines. A genetic mutation prevents copper from being attached to ceruloplasmin. Ceruloplasmin carries copper in the blood stream. The result is copper begins accumulating in the liver causing liver failure. If the level continues to increase it overflows into the bloodstream causing damage to other body parts.

Symptoms

Abdominal pain in the right upper abdomen, yellowing skin (jaundice), low red blood cells (anemia), abdominal swelling (ascites), leg swelling (edema), enlarged spleen (splenomegaly), tremors, muscle spasms, difficulty walking, speech problems, drooling, behavioral problems, golden brown discoloration around the corneas (Kayser-Fleischer ring), kidney stones.

Tests

A history and physical exam will be done. An special eye exam (slit lamp) will be done to look for Kayser-Fleischer rings. A liver biopsy may be performed to establish the diagnosis. A genetic test to identify the genetic mutation is recommended.

Treatment

Therapy depends on the severity of the disease. The goal is to remove the excess copper from the body and to prevent reaccumulation. Lifelong treatment is required. The medications used include: penicillamine (Cuprimine), trientine (Syprine), and zinc acetate. Dietary restrictions are recommended as well. At times the liver damage is severe (cirrhosis) requiring a liver transplant. For more information contact the National Digestive Diseases Information Clearinghouse at: http://digestive.niddk.nih.gov or call (800)891-5389.

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