Leipzig scoring system for Wilson disease

Typical clinical symptoms and signs		Other tests
KF rings		Liver copper (in the absence of cholestasis)
Present	2	>5x ULN (>4 micromol/g)	2
Absent	0	0.8 to 4 micromol/g	1
Neurologic symptoms*		Normal (<0.8 micromol/g)	–1
Severe	2	Rhodanine-positive granules^¶	1
Mild	1	Urinary copper (in the absence of acute hepatitis)
Absent	0	Normal	0
Serum ceruloplasmin		1 to 2x ULN	1
Normal (>0.2 g/L)	0	>2x ULN	2
0.1 to 0.2 g/L	1	Normal, but >5x ULN after D-penicillamine	2
<0.1 g/L	2	Mutation analysis
Non-immune (Coombs-negative) hemolytic anemia		On both chromosomes detected	4
Present	1	On one 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

This scoring system includes clinical and laboratory testing. If information is missing for a given item, the patient is assigned 0 points for that item. Results are assigned to one of three categories: diagnosis of Wilson disease is highly likely; the diagnosis is probable, but confirmatory testing is warranted; or diagnosis is unlikely and other etiologies should be considered.

KF: Kayser-Fleischer; ULN: upper limit of normal.

* Or typical abnormalities at brain magnetic resonance imaging.

¶ If no quantitative liver copper available.

Reproduced from: European Association for Study of Liver. EASL Clinical Practice Guidelines: Wilson's disease. J Hepatol 2012; 56:671. Table used with the permission of Elsevier Inc. All rights reserved.

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Leipzig scoring system for Wilson disease