Wilson disease: more than meets the eye.
review · Level V
Where this comes from
- Record sourced from PubMed, PMID 29449431.
- Also identified by DOI 10.1136/postgradmedj-2017-135381.
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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.
Medical subject headings
- Hepatolenticular Degeneration