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Wilson disease: Diagnostic tests

Author
Michael L Schilsky, MD, FAASLD
Section Editors
Elizabeth B Rand, MD
Bruce A Runyon, MD
Michael J Aminoff, MD, DSc
Deputy Editor
Anne C Travis, MD, MSc, FACG, AGAF

INTRODUCTION

Wilson disease (hepatolenticular degeneration) is an autosomal recessive defect in 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 and fails. In addition, patients may develop neurologic complications, which can be severe and progressive. Establishing a diagnosis of Wilson disease is crucial since early detection and treatment may prevent disease progression and even reverse damage in some patients.

Wilson disease should be considered in any patient with unexplained liver, neurologic, or psychiatric abnormalities. In addition, first-degree relatives of patients with Wilson disease should be screened for Wilson disease. (See "Wilson disease: Clinical manifestations, diagnosis, and natural history", section on 'When to consider Wilson disease' and "Wilson disease: Clinical manifestations, diagnosis, and natural history", section on 'Screening family members'.)

This topic will review the specific diagnostic tests used in the evaluation of patients with suspected Wilson disease. The epidemiology, pathogenesis, clinical manifestations, approach to diagnosis, and treatment of Wilson disease are discussed separately. (See "Wilson disease: Epidemiology and pathogenesis" and "Wilson disease: Clinical manifestations, diagnosis, and natural history" and "Wilson disease: Treatment and prognosis".)

DIAGNOSTIC APPROACH

In patients with clinical features suggestive of Wilson disease (eg, abnormal liver tests combined with neurologic symptoms), we start by obtaining liver biochemical tests, a complete blood count, serum ceruloplasmin and copper levels, an ocular slit-lamp examination, and a 24-hour urinary copper excretion. The results of these tests may be sufficient to make a diagnosis of Wilson disease (or to exclude it), but patients with indeterminate results will require additional testing, such as a liver biopsy with copper quantitation or molecular testing for ATP7B mutations.

The general approach to diagnosing Wilson disease, including when to obtain additional testing, is discussed separately. (See "Wilson disease: Clinical manifestations, diagnosis, and natural history", section on 'Diagnosis'.)

                

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Literature review current through: Nov 2016. | This topic last updated: Tue Dec 01 00:00:00 GMT+00:00 2015.
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