Wilson's disease diagnostic study of choice

Wilson’s disease diagnostic criteria is based on scoring system which includes clinical presentation, laboratory findings, and gene mutation analysis. The score of 4 or more is diagnostic for Wilson’s disease. The score of 2 or less is ruling out Wilson’s disease.

Wilson’s disease is diagnosed mainly based on the clinical presentation, the laboratory findings, and gene mutation analysis.

The following includes a scoring system established for the diagnosis for Wilson’s disease:^[1]

• Clinical presentation:
  • Kayser-Fleischer rings:
    • Present: 2
    • Not present: 0
  • Neurologic manifestations:
    • Severe: 2
    • Mild: 1
    • Not present: 0
• Laboratory findings:
  • Serum ceruloplasmin:
    • Less than 0.1 g/L: 2
    • 0.1-0.2 g/L: 1
    • Normal (more than 0.2 g/L): 0
  • Coombs negative hemolytic anemia:
    • Present: 2
    • Not present: 0
  • Liver copper:
    • More than 4 micromol/g: 2
    • 0.8-4 micromol/g: 1
    • Less than0.8 micromol/g: -1
  • Rhodanine positive hepatocytes (in case copper level measurment is not available):
    • Present: 1
    • Not present: 0
  • Urinary copper:
    • More than 2x ULN: 2
    • 1-2X ULN: 1
    • Normal: 0
    • Normal but >5x ULN after D-penicillamine: 2
• Gene mutation analysis:
  • Mutation detected on both chromosomes: 4
  • Mutation detected on one chromosome: 2
  • No mutations detected: 0
• Conclusion of the score:
  • If the score is 4 or more: Diagnosis established
  • If the score is 3: More tests needed to diganose Wilson’s disease
  • If the score is 2 or less: Diagnosis of Wilson’s disease is unlikely