Wilson disease

Leipzig score for diagnosis of Wilson disease (2003)[6]Ferenci P, Caca K, Loudianos G, et al. Diagnosis and phenotypic classification of Wilson disease. Liver Int. 2003 Jun;23(3):139-42. http://www.ncbi.nlm.nih.gov/pubmed/12955875?tool=bestpractice.com

Kayser-Fleischer rings (slit-lamp examination)

• Present: 2 points

• Absent: 0 points

Neuropsychiatric symptoms suggestive of Wilson disease or typical brain MRI

• Present: 2 points

• Absent: 0 points

Coombs-negative hemolytic anemia (+ high serum copper)

• Present: 1 point

• Absent: 0 points

Urinary copper (in the absence of hepatitis)

• Normal: 0 points

• 1-2 times the upper limit of normal (ULN): 1 point

• >2 times ULN: 2 points

• Normal but >5 times ULN one day after challenge with penicillamine: 2 points

Quantitative liver copper

• Normal: -1 point

• ≤5 times ULN: 1 point

• >5 times ULN: 2 points

Rhodanine-positive hepatocytes (only if quantitative liver copper unavailable)

• Absent: 0 points

• Present: 1 point

Serum ceruloplasmin (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 mutation on one chromosome: 1 point

• No disease-causing mutation detected: 0 points

Total score

≥4: diagnosis of Wilson disease highly likely

2-3: diagnosis of Wilson disease probable, more investigations needed

0-1: diagnosis of Wilson disease unlikely