Wilson's disease diagnostic study of choice
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Ahmed Elsaiey, MBBCH [2]
Overview
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.
Diagnostic study of choice
Scoring system for the diagnosis of 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
- Kayser-Fleischer rings:
- 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
- Serum ceruloplasmin:
- 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
- Clinical presentation:
References
- ↑ Ferenci P, Caca K, Loudianos G, Mieli-Vergani G, Tanner S, Sternlieb I; et al. (2003). "Diagnosis and phenotypic classification of Wilson disease". Liver Int. 23 (3): 139–42. PMID 12955875.