More information on Wilson's disease  causes of Wilson's disease symptoms of Wilson's disease diagnosis of Wilson's disease treatment for Wilson's disease Articles in liver diseases - cirrhosis of the liver hemochromatosis primary sclerosing cholangitis primary biliary cirrhosis alagille syndrome alpha1-antitrypsin deficiency Crigler-Najjar syndrome hepatitis fatty liver liver transplant Wilson's disease ascites cholestasis jaundice liver encephalopathy liver failure portal hypertension |
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How is Wilson's disease diagnosed?
Wilson's disease is so rare, diagnosis is often unfortunately delayed. The diagnosis of Wilson's disease can usually be made by a combination of blood tests, urine tests, eye test and liver biopsy. A decreased copper binding protein in blood, called serum ceruloplasmin, is found in 95% of patients with Wilson’s disease. An increase in the excretion of copper in urine is present in most but not all symptomatic patients, and corneal Kayser-Fleischer rings, visible with the aid of a slit lamp examination performed by an optometrist or ophthalmologist, is present in 50% of patients presenting with liver disease. A liver biopsy may be performed to measure the amount of copper in the liver, which is elevated uniformly in all patients with Wilson’s disease. Genetic testing of DNA samples by haplotype analysis can be used for family screening of siblings of an identified patient. |
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More information on Wilson's disease
What is Wilson's disease? - Wilson's disease is an inherited disorder in which excessive amounts of copper accumulate in the body. The overload can cause severe liver and brain damage if not treated with medication.
What causes Wilson's disease? - Wilson's disease is a genetically inherited metabolic defect in humans that is due to a deficiency of ceruloplasmin, resulting in an increase in the level of Cu in the brain and liver.
What're the symptoms of Wilson's disease? - Wilson's disease causes swelling and tenderness of the liver, sometimes with fever, mimicking more common disorders.
How is Wilson's disease diagnosed? - The diagnosis of Wilson's disease can usually be made by a combination of blood tests, urine tests, eye test and liver biopsy.
What's the treatment for Wilson's disease? - Treatment of Wilson's disease generally consists of anti-copper agents to remove excess copper from the body and to prevent it from re-accumulating. |
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