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 2 years prior after a hospitalisation for acute liver failure, during which viral, autoimmune and metabolic workup was unrevealing. Heavy alcohol consumption was his...

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Bibliographic Details
Published in:BMJ case reports 2019-10, Vol.12 (10), p.e232449
Main Author: Patel, Roshni
Format: Article
Language:English
Subjects:
Abdomen
Acute-On-Chronic Liver Failure - diagnosis
Adult
Alcohol
alcoholic liver disease
Alkaline Phosphatase - blood
Biomarkers - blood
Blood
Case reports
Ceruloplasmin - analysis
cirrhosis
Diagnosis, Differential
Family medical history
Hemoglobin
Hepatitis
Hepatolenticular Degeneration - diagnosis
Hepatolenticular Degeneration - therapy
Hepatology
Humans
Immunoglobulins
Laboratories
Liver cirrhosis
Liver Cirrhosis, Alcoholic - diagnosis
liver disease
Liver diseases
Male
Medical diagnosis
Phosphatase
Plasma Exchange
Proteins
Rare Disease
Urine
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Summary:A 32-year-old man with alcoholic cirrhosis presented with worsening abdominal distension and jaundice. He was diagnosed with cirrhosis 2 years 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.
ISSN:1757-790X
1757-790X
DOI:10.1136/bcr-2019-232449