Wilson's disease diagnostic study of choice
|
Wilson's disease Microchapters |
|
Diagnosis |
|---|
|
Treatment |
|
Wilson's disease diagnostic study of choice On the Web |
|
American Roentgen Ray Society Images of Wilson's disease diagnostic study of choice |
|
Risk calculators and risk factors for Wilson's disease diagnostic study of choice |
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
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.