Wilson's disease: Revisiting an old friend

Table 3 Leipzig scoring for Wilson’s disease

Typical clinical signs and symptoms
Kayser-Fleischer ring
Present	2
Absent	0
Neurologic symptoms or typical abnormalities on MRI
Severe	2
Mild	1
Absent	0
Serum ceruloplasmin
Normal (> 0.2 g/L)	0
0.1-0-2 g/L	1
< 0.1 g/L	2
Coombs negative hemolytic anemia
Present	1
Absent	0
Other tests
Liver copper1
> 4 μmol/g	2
0.8-4 μmol/g	1
< 0.8 μmol/g	-1
Rhodamine positive granules2	1
Urinary copper excretion3
Normal	0
1-2 times ULN	1
> 2 times ULN	2
5 times ULN after penicillamine	2
Mutation analysis detected
Both chromosomes	4
One chromosome	1
No mutations	0
Total Leipzig score
Score	Evaluation
≥ 4	Diagnosis established
3	Diagnosis possible
≤ 2	Diagnosis very unlikely

¹In the absence of cholestasis.

²If no quantitative liver copper available.

³In the absence of acute hepatitis. MRI: Magnetic resonance imaging; ULN: Upper limit of normal.