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Diagnosis Confirmation and Screening of Wilson Disease

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Management of Wilson Disease

Part of the book series: Clinical Gastroenterology ((CG))

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Abstract

The diagnosis of Wilson disease (WD) can be challenging and may require a multidisciplinary evaluation utilizing clinical and biochemical tests. Molecular genetic analysis of the WD gene, ATP7B has enhanced diagnosis of this disorder and can be used for family screening of siblings and confirmation in challenging cases. The presentation of the disease is variable and can range from complete lack of symptoms to catastrophic, life-threatening sequelae affecting the liver, brain, and other body systems. In this section, we will focus on the diagnostic principles for establishing a diagnosis of WD and screening for WD in other family members.

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Authors and Affiliations

  1. Department of Gastroenterology and Hepatology, Royal Surrey County Hospital, Surrey, UK

    Marinos Pericleous & Claire Kelly

  2. Department of Clinical and Experimental Medicine, University of Surrey, Surrey, UK

    Marinos Pericleous & Claire Kelly

  3. Division of Digestive Diseases and Transplant and Immunology, Departments of Medicine and Surgery, Yale University, New Haven, CT, USA

    Michael L. Schilsky

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  1. Marinos Pericleous
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  2. Claire Kelly
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  3. Michael L. Schilsky
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Correspondence to Michael L. Schilsky .

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  1. Yale New Haven Transplantation Center, Yale University, New Haven, Connecticut, USA

    Michael L. Schilsky

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Pericleous, M., Kelly, C., Schilsky, M.L. (2018). Diagnosis Confirmation and Screening of Wilson Disease. In: Schilsky, M. (eds) Management of Wilson Disease . Clinical Gastroenterology. Humana Press, Cham. https://doi.org/10.1007/978-3-319-91527-2_2

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  • DOI: https://doi.org/10.1007/978-3-319-91527-2_2

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