Wilson’s Disease: Diagnosis of Wilson’s Disease in Ethiopian Young Sisters

Table 2

Diagnostic scoring system for Wilson’s disease proposed by “8^th International Meeting on Wilson Disease and Menkes Disease, Leipzig (2001).”

Kayser–Fleischer rings
Present	2
Absent	0
Neurologic symptoms (or typical brain MRI)
Severe	2
Mild	1
Absent	0
Serum ceruloplasmin
Normal (>20 mg/dl)	0
10–20 mg/dl	1
<10 mg/dl	2
Coomb’s negative hemolytic anemia
Present	1
Absent	0
Liver copper (in absence of cholestasis)
>250 μg/g	2
50–250 μg/g	1
Normal (<50 μg/g)	0
Urinary copper (in absence of acute hepatitis)
Normal	0
1-2 × ULN	1
>2 × ULN	2
Normal, but >5 × ULN after penicillamine	2
Mutation analysis
Two chromosome mutations	4
One chromosome mutation	1
No chromosomes detected	0
Total score	Evaluation
4 or more	Diagnosis established
3	Diagnosis possible, more tests needed
2 or less	Diagnosis very unlikely

Note: ULN, upper limit of normal.