Haemolytic anaemia as a first sign of Wilson's disease.
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.
Balkema
S
S
Department of Internal Medicine, Medical Centre Alkmaar, Alkmaar, the Netherlands. Sebastiaan.Balkema@mca.nl
Hamaker
M E
ME
Visser
H P J
HP
Heine
G D N
GD
Beuers
U
U
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*