Case Report: Using basic liver function tests as a guide to suspected Wilson's disease

Area of Science:

• Hepatology
• Rare Diseases
• Medical Diagnostics

Background:

• Wilson disease is a rare genetic disorder causing copper accumulation, primarily affecting the liver and brain.
• Subacute liver disease presentation can obscure diagnosis, especially with co-existing conditions like alcohol abuse.
• Basic liver function tests (LFTs) provide initial clues to liver pathology.

Observation:

• A 36-year-old female with a history of alcohol abuse presented with subacute liver disease.
• Initial LFTs revealed an aspartate transaminase/alanine transaminase ratio > 2.2 and alkaline phosphatase/total bilirubin ratio < 4.
• This LFT pattern, typically seen in acute liver failure, prompted suspicion for Wilson disease.

Findings:

• Further investigations, including slit lamp eye examination for Kayser-Fleischer rings, serum ceruloplasmin, and 24-hour urinary copper levels, confirmed the diagnosis of Wilson disease.
• The patient showed clinical and biochemical improvement after treatment with zinc acetate.
• The diagnostic utility of basic LFTs in suspecting Wilson disease was demonstrated.

Implications:

• Basic LFTs can serve as a cost-effective screening tool for Wilson disease in diverse clinical settings.
• Early suspicion and targeted investigations are crucial for timely diagnosis and management of Wilson disease.
• This case underscores the importance of considering rare diseases even with common presentations, particularly in resource-limited areas.