title: Haemolytic anaemia as a first sign of Wilson's disease.
abstract: A 19-year-old female presented with haemolytic anaemia and subsequently developed liver failure. This raised suspicion of Wilson's disease, which was confirmed by Kayser-Fleischer rings, a low ceruloplasmin level, raised 24-hour urinary copper excretion and two mutations in the 'Wilson gene'. She was successfully treated with D-penicillamine and zinc. In young patients with unexplained haemolysis, liver dysfunction or neuro-psychiatric symptoms, Wilson's disease should be considered.
authors.affiliation: Department of Internal Medicine, Medical Centre Alkmaar, Alkmaar, the Netherlands. Sebastiaan.Balkema@mca.nl
authors.forename: S
authors.initials: S
authors.lastname: Balkema
authors.forename: M E
authors.initials: ME
authors.lastname: Hamaker
authors.forename: H P J
authors.initials: HP
authors.lastname: Visser
authors.forename: G D N
authors.initials: GD
authors.lastname: Heine
authors.forename: U
authors.initials: U
authors.lastname: Beuers
mesh_terms: D000328:Adult; D000743:Anemia, Hemolytic / Q000175:diagnosis* / Q000188:drug therapy / Q000503:physiopathology; D005260:Female; D006527:Hepatolenticular Degeneration / Q000175:diagnosis* / Q000188:drug therapy / Q000503:physiopathology; D006801:Humans; D017093:Liver Failure / Q000503:physiopathology*