Table 6.2-8. Scoring system developed at the 8th International Meeting on Wilson disease (Leipzig 2001)

Clinical findings

Serum/blood tests

Urine copper

ATP7B mutation

Liver biopsy

Score

 

 

 

Homozygous

 

4 points

– KF rings

– Severe neurologic symptomsa

Ceruloplasmin <0.1 g/L

– >2 × ULN

– Normal but >5 × ULN after penicillamine

 

Copper >5 × ULN (>4 micromol/g)

2 points each

Mild neurologic symptoms

 

– Ceruloplasmin 0.1-0.2 g/L

– Hemolytic anemia

1-2 × ULN

Heterozygous

– Copper 0.8-4 micromol/g

– Rhodanine-positive granulesb

1 point each

 

 

 

 

Normal copper (<0.8 micromol/g)

−1 point

Interpretation:

Score ≥4: Wilson disease probable

Score 3: Inconclusive

Score ≤2: Wilson disease unlikely

a Or typical abnormalities on brain MRI.

b If no quantitative liver copper available.

Based on Liver Int. 2003;23(3):139-42.

KF, Kayser-Fleischer; MRI, magnetic resonance imaging; ULN, upper limit of normal.