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- Title
Wilson disease: more than meets the eye.
- Authors
Kelly, Claire; Pericleous, Marinos
- Abstract
Wilson disease is a rare but important disorder of copper metabolism, with a failure to excrete copper appropriately into bile. It is a multisystem condition with presentations across all branches of medicine. Diagnosis can be difficult and requires a high index of suspicion. It should be considered in unexplained liver disease particularly where neuropsychiatric features are also present. Treatments are available for all stages of disease. A particularly important presentation not to overlook is acute liver failure which carries a high mortality risk and may require urgent liver transplantation. Here, we provide an overview of this complex condition.
- Subjects
COPPER metabolism disorders; COPPER metabolism regulation; COPPER in the body; RARE diseases; DIAGNOSIS; HEPATOLENTICULAR degeneration diagnosis; BIOPSY; DIFFERENTIAL diagnosis; HEPATOLENTICULAR degeneration; LIVER transplantation
- Publication
Postgraduate Medical Journal, 2018, Vol 94, Issue 1112, p342
- ISSN
0032-5473
- Publication type
journal article
- DOI
10.1136/postgradmedj-2017-135381