Review article: diagnosis and current therapy of Wilson's disease.
Wilson's disease is an autosomal recessive inherited disorder of hepatic copper metabolism resulting in liver disease and/or neuropsychiatric disease. The diagnosis of neurological disease is straightforward if the following symptoms are present: Kayser-Fleischer rings, typical neurological symptoms and low serum ceruloplasmin levels. The diagnosis is more complex in patients presenting with liver diseases. None of the commonly used parameters alone allows a diagnosis with certainty. A combination of various laboratory parameters is necessary to firmly establish the diagnosis. In the future, limited mutation analysis may play an important diagnostic role. Recently, a group of international experts has proposed a score based on a variety of tests and clinical symptoms. The validity of this score needs to be assessed prospectively. Treatment requires life-long administration of copper chelators (d-penicillamine, trientine). A frequently used alternative is zinc. None of these treatments has been tested by prospective randomized controlled studies. Liver transplantation is reserved for severe or treatment-resistant cases with advanced liver disease, whilst experience with refractory neuropsychiatric disease is limited.
Ferenci
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Department of Internal Medicine IV, Gastroenterology and Hepatology, University of Vienna, Austria. peter.ferenci@akh-wien.ac.at
D000975:Antioxidants / Q000627:therapeutic use; D002614:Chelating Agents / Q000627:therapeutic use; D005820:Genetic Testing; D006527:Hepatolenticular Degeneration / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D006801:Humans; D016031:Liver Transplantation; D010375:Pedigree; D015032:Zinc / Q000627:therapeutic use
D000975:Antioxidants; D002614:Chelating Agents; D015032:Zinc