Clinical presentations of Wilson disease

Ann Transl Med. 2019 Apr;7(Suppl 2):S60. doi: 10.21037/atm.2019.04.27.


The main presenting features of Wilson disease, many of which mimic common hepatic and neurologic disorders, are discussed. There is a need for specialists in these and related fields to be aware of hints from within and, more importantly, outside their area of expertise that should alert them to consider the diagnosis. Delayed diagnosis and treatment are potentially damaging for the patient. The importance of recognising and promptly investigating Wilson disease at the initial presentation should be understood by all those who assess patients with hepatic or neurologic disorders and/or train others in their specialty.

Keywords: Copper; Wilson disease (WD); Wilson’s disease (WD); lenticular degeneration; metabolic diseases.

Publication types

  • Review