Wilson disease: a diagnostic challenge in a patient with alcoholic liver disease

A 32-year-old man with alcoholic cirrhosis presented with worsening abdominal distension and jaundice. He was diagnosed with cirrhosis 2years prior after a hospitalisation for acute liver failure, during which viral, autoimmune and metabolic workup was unrevealing. Heavy alcohol consumption was his only obvious risk factor for liver disease, so his decompensation was attributed to alcohol. At the present time, he was admitted with acute-on-chronic liver failure and acute renal failure. The severity of his presentation and the disproportionately mild elevation in alkaline phosphatase relative to his hyperbilirubinaemia prompted repeating a ceruloplasmin level, which, though previously normal, was now low, and eventually led to a diagnosis of Wilson disease (WD) with concomitant alcoholic liver disease. Clinicians must recognise limitations in ceruloplasmin and copper levels when screening for WD and maintain suspicion for WD in young patients, even if there is an already established aetiology of liver disease.