Background: To determine the cut-off level of serum ceruloplasmin when screening for Wilson’s Disease (WD) in Indian Children.

Methods: This retrospective study was conducted in 40 children from 2012-1015. All children suspected of WDwho were screened with ceruloplasmin were included in the study. All patients with acute liver failure (ALF) were excluded from the study. As per EASL guidelines, patients were divided into 2 groups: those having WD and those who were non-WD. Sensitivity and specificity of ceruloplasmin to diagnose and rule out WD at various cut-off levels were analysed. 

Results: Eighteen (45%) children had WD. Low ceruloplasmin was present in all patients (100%) with WD whereas it was low in 10(45%) in patients without WD (p=0.001). The mean ceruloplasmin level in patients with WD was 6.5±4.8 mg/dl and in those without WD was 21±5.5 mg/dl (p=0.0001). Ceruloplasmincut off levels of 20mg/dl had a high sensitivity (100%) with low specificity (54.6%) with high negative predictive value (NPV:100%) and low positive predictive value (PPV :64.3%). When cut off was taken as <10 mg/dl then sensitivity was 72.2% and specificity was 95.5% with PPV of 92.9% and NPV of 80.8%. However, with a cut-off of <5mg/dl, the sensitivity was 55.6% and specificity was 100% with PPV of 100% and NPV of 73.3%.

Conclusion: Serum ceruloplasmin of >20 mg/dl rules out WD. However, low ceruloplasmin may also be seen in 45% of patients without WD. Ceruloplasmin level of <10mg/dl is predictive of WD in 93% of patients and <5mg/dl is diagnostic of WD in 100% of patients.