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Table 1 Scoring system on Wilson’s disease [26]

From: National alliance for Wilson’s disease: health policy in Costa Rica

Typical clinical symptoms and signs   Other tests  
Kayser-Fleischer Rings   Liver Copper (in the absence of cholestasis)  
 Present 2  >5x ULN (>4 μmol/g) 2
 Absent 0  0.8-4 μmol/g 1
Neurologic Symptomsb    Normal (<0.8 μmol/g) -1
 Severe 2  Rhodamine -positive granulesa 1
 Mild 1 Urinary copper (in absence of acute hepatitis)  
 Absent 0  Normal 0
Serum Ceruloplasmin    1-2x ULN 1
 Normal (>0.2 g/L) 0  >2x ULN 2
 0.1-0.2 g/L 1  Normal but >5x ULN after D penicilamine 2
 <0.1 g/L 2 Mutation analysis  
Coombs-negative hemolytic anemia    On both chromosomes detected 4
 Present 1  On 1 chromosome detected 1
 Absent 0  No mutations detected 0
TOTAL SCORE EVALUATION    
 4 or more Diagnosis established    
 3 Diagnosis possible, more tests needed    
 2 or less Diagnosis very unlikely    
  1. Scoring System on Wilson’s disease. 8th International Meeting on Wilson’s disease. Leipzig, 2001
  2. aIf no quantitative liver copper available, bor typical abnormalities at brain magnetic resonance imaging. ULN, upper limit of normal