[An adolescent with hemolytic anemia and coagulation disorders as manifestation of Wilson's disease, treated with liver transplantation].
A 16-year-old woman presented with anaemia, jaundice, vomiting and nosebleed. She had acute hepatic failure and haemolytic anaemia and developed acute respiratory distress syndrome (ARDS). Wilson's disease was diagnosed. After the ARDS resolved the patient underwent a successful orthotopic liver transplantation. Diagnostic combinations for Wilson's disease are ceruloplasmin < 0.2 g/l with Kayser-Fleischer rings, liver copper > 250 micrograms/g (dry weight) with Kayser-Fleischer rings, or homozygosity for a Wilson mutation on the 13th chromosome. In acute liver failure a copper excretion in 24 h-urine above 1 mg is diagnostic for Wilson's disease, while an elevated serum copper concentration makes this diagnosis very likely. Therapeutic options for Wilson's disease are chelation therapy and liver transplantation; in most cases of acute liver failure due to Wilson's disease orthotopic liver transplantation (preceded by albumin dialysis) is indicated. Nazer's index should be used in addition to the regular King's College criteria for liver transplantation indication.
Afd. Hematologie, Leids Universitair Medisch Centrum, Postbus 9600, 2300 RC Leiden.
R E
RE
Brouwer
A
A
Manten
A M
AM
van Leeuwen
R A
RA
Veenendaal
J
J
Ringers
B
B
van Hoek
D000293:Adolescent; D000743:Anemia, Hemolytic / Q000209:etiology*; D001778:Blood Coagulation Disorders / Q000209:etiology*; D003937:Diagnosis, Differential; D005260:Female; D006527:Hepatolenticular Degeneration / Q000150:complications* / Q000175:diagnosis* / Q000473:pathology / Q000601:surgery; D006801:Humans; D017114:Liver Failure, Acute / Q000209:etiology*; D016031:Liver Transplantation; D009426:Netherlands; D017410:Practice Guidelines as Topic; D012128:Respiratory Distress Syndrome / Q000209:etiology*