Table 1.

Diagnostic Scoring System for Wilson disease

TestParameterScore
Typical clinical symptoms & signs
Kayser-Fleischer ringsPresent2
Absent0
Neurologic manifestations 1Severe2
Mild1
Absent0
Serum ceruloplasminNormal (>0.2 g/L)0
0.1-0.2 g/L1
<0.1 g/L2
Coombs-negative hemolytic anemiaPresent1
Absent0
Other tests
Liver copper (in the absence of cholestasis)>250 μg (>4 μmol)/g dry weight2
50-249 μg (0.8–4 μmol)/g dry weight1
Normal: <50 μg (<0.8 μmol)/g dry weight-1
Rhodanine-positive granules 21
Urinary copper (in the absence of acute hepatitis)Normal0
1-2x ULN1
>2x ULN2
Normal but >5x ULN after D-penicillamine2
ATP7B molecular genetic testingBiallelic pathogenic variants detected4
One pathogenic variant detected1
No pathogenic variants detected0
Evaluation Total score
Diagnosis established≥4
Diagnosis possible, more tests needed3
Diagnosis very unlikely≤2

Adapted with permission from Ferenci et al [2003]

ULN = upper limit of normal

1.

Or typical abnormalities on brain MRI

2.

If no quantitative liver copper available

From: Wilson Disease

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