Diagnostic Scoring System for Wilson’s Disease

Normal dietary consumption and absorption of copper exceed the metabolic need, and homeostasis of this element is maintained exclusively by the biliary excretion of copper. Wilson’s disease is an inherited disorder in which defective biliary excretion of copper leads to its accumulation, particularly in liver and brain.

Scoring system developed for Wilson’s disease (Leipzig)

Clinical and Laboratory Presentation	Points
Kayser–Fleischer rings Present Absent	2 0
Neurologic symptoms** Severe Mild Absent	2 1 0
Serum ceruloplasmin Normal (>0.2 g/L) 0.1-0.2 g/L <0.1 g/L	0 1 2
Coombs-negative hemolytic anemia Present Absent	1 0
Liver copper (in the absence of cholestasis) >5x ULN (>4 μmol/g) 0.8-4 μmol/g Normal (<0.8 μmol/g) Rhodanine-positive granules*	2 1 -1 1
Urinary copper (in the absence of acute hepatitis) Normal 1-2x ULN >2x ULN Normal, but >5x ULN after D-penicillamine	0 1 2 2
Mutation analysis On both chromosomes detected On 1 chromosome detected No mutations detected	4 1 0
TOTAL SCORE Evaluation: 4 or more Diagnosis established 3 Diagnosis possible, more tests needed 2 or less Diagnosis very unlikely

*If no quantitative liver copper available, **or typical abnormalities at brain magnetic resonance imaging. KF, Kayser–Fleischer; ULN, upper limit of normal.

 

References:

1. European Association for Study of Liver. EASL Clinical Practice Guidelines: Wilson’s disease. J Hepatol. 2012 Mar;56(3):671-85. [Medline]
2. Kasztelan-Szczerbinska B, Cichoz-Lach H. Wilson’s Disease: An Update on the Diagnostic Workup and Management. J Clin Med. 2021 Oct 30;10(21):5097. [Medline]

 

Created Jan 17, 2022.