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Wilson disease: Clinical manifestations, diagnosis, and natural history

Michael L Schilsky, MD, FAASLD
Section Editors
Elizabeth B Rand, MD
Bruce A Runyon, MD
Michael J Aminoff, MD, DSc
Deputy Editor
Kristen M Robson, MD, MBA, FACG


Wilson disease (hepatolenticular degeneration) is due to a genetic abnormality inherited in an autosomal recessive manner that leads to impairment of cellular copper transport. It is found worldwide, with a prevalence of approximately 1 case in 30,000 live births in most populations. Impaired biliary copper excretion leads to accumulation of copper in several organs, most notably the liver, brain, and cornea. Over time, the liver is progressively damaged and eventually becomes cirrhotic. A small percent of patients develop acute liver failure, most often in the setting of advanced fibrosis of the liver. In addition, patients may develop neurologic complications, which can be severe.

This topic will review the clinical manifestations, diagnosis, and natural history of Wilson disease. The epidemiology, pathogenesis, and treatment of Wilson disease, as well as a detailed discussion of the individual tests used to diagnose Wilson disease, are discussed separately. (See "Wilson disease: Epidemiology and pathogenesis" and "Wilson disease: Diagnostic tests" and "Wilson disease: Treatment and prognosis".)


The clinical manifestations of Wilson disease are predominantly hepatic, neurologic, and psychiatric, with many patients having a combination of symptoms [1]. Hemolysis is also a common finding in patients with acute liver failure due to Wilson disease, but sometimes may occur episodically independent of liver failure.

Patients may present with a wide variety of symptoms (especially those with neurologic symptoms) [2]. Even within a given family, patients often present with different symptoms [3]. There is wide variability in the reported rates of the different clinical manifestations seen at the time of presentation [2,4-14]:

Liver disease: 18 to 84 percent of patients

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Literature review current through: Nov 2017. | This topic last updated: Nov 10, 2015.
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