Diagnosis Confirmation and Screening of Wilson Disease

  • Marinos Pericleous
  • Claire Kelly
  • Michael L. SchilskyEmail author
Part of the Clinical Gastroenterology book series (CG)


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.


Wilson disease Ceruloplasmin Copper metabolism Diagnosis ATP7B 


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Copyright information

© Springer International Publishing AG, part of Springer Nature 2018

Authors and Affiliations

  • Marinos Pericleous
    • 1
    • 2
  • Claire Kelly
    • 1
    • 2
  • Michael L. Schilsky
    • 3
    Email author
  1. 1.Department of Gastroenterology and HepatologyRoyal Surrey County HospitalSurreyUK
  2. 2.Department of Clinical and Experimental MedicineUniversity of SurreySurreyUK
  3. 3.Division of Digestive Diseases and Transplant and Immunology, Departments of Medicine and SurgeryYale UniversityNew HavenUSA

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