Table 2.

The scoring system (Ferenci score) for the diagnosis of Wilson’s disease developed at the 8th International Meeting on Wilson’s Disease and Menkes Diseases, Leipzig 2002.

K–F rings	Present (2 points)	Absent (0 points)
Neuropsychiatric symptoms suggest WD (or typical brain MRI)	Yes (2 points)	No (0 points)
Coombs negative hemolytic anemia	Yes (1 point)	No (0 points)
24 h urinary copper excretion (in the absence of acute hepatitis)	Normal (0 points)	1–2 × ULN (1 point)	>2 × ULN, or normal, but >5 × ULN after challenge with 2 × 0.5 g D-penicillamine (2 points)
Liver copper quantitative	Normal (−1 point)	<5 × ULN (1 point)	>5 × ULN (2 points)
Rhodanine-positive hepatocytes (only in case of lack of Cu quantitative assessment)	Absent (0 points)	Present (1 point)
Serum ceruloplasmin (nephelometric assay, normal >20 mg/dL)	Normal (0 points)	10–20 mg/dL (1 point)	<10 mg/dL (2 points)
Mutation analysis	Disease causing mutations on both chromosomes (4 points)	Disease causing mutations on one chromosome (1 point)	No mutation detected (0 points)

Assessment of the WD diagnosis score:

⩾4 points: diagnosis of WD highly likely.

2–3 points: diagnosis of WD probable, more investigations needed.

0–1 point: diagnosis of WD unlikely.

MRI, magnetic resonance imaging; ULN, upper limit of normal.