Clinical, biochemical, radiological and histopathological profile of cholestasis in infancy: a single-centre retrospective cohort study of 101 infants from South India

Background Cholestasis in infancy carries a heterogeneous aetiology. Extrahepatic biliary atresia and intrahepatic disorders share a clinical picture of persistent jaundice, yet outcomes in extrahepatic disease deteriorate rapidly with each week of diagnostic delay. Contemporary Indian data on their separation using an integrated diagnostic approach are limited. Methods We conducted a single-centre retrospective cohort study of infants (birth to one year) with prolonged cholestatic jaundice at a tertiary hospital in South India between January 2017 and December 2023. Each infant was classified as extrahepatic or intrahepatic on the basis of scintigraphy, ultrasonography, liver biopsy and intra-operative cholangiography. Continuous variables were compared with the Mann Whitney U test (effect size r reported), and receiver operating characteristic analysis was performed for candidate biochemical predictors. Results Of 101 infants, 61 (60.4 per cent) had extrahepatic cholestasis and 40 (39.6 per cent) had intrahepatic cholestasis. Median direct bilirubin was 8.94 versus 5.70 milligrams per decilitre (p equals 0.001, r equals 0.35), gamma glutamyl transferase 526 versus 128 units per litre (p less than 0.001, r equals 0.41), and total protein 6.10 versus 5.05 grams per decilitre (p less than 0.001, r equals 0.47). Total protein yielded the highest area under the receiver operating characteristic curve (0.79, 95 per cent confidence interval 0.67 to 0.90; Youden cut off 5.8, sensitivity 75.5 per cent, specificity 76.0 per cent). Mortality was 34.7 per cent versus 14.3 per cent (risk difference 20.4 per cent, 95 per cent confidence interval 1.8 to 39.0). Conclusions Extrahepatic biliary atresia dominated referrals and diagnosis was often delayed. Total protein, direct bilirubin and gamma glutamyl transferase discriminated the two groups with clinically useful accuracy. A tiered diagnostic pathway anchored on these biochemistry markers is warranted for early identification of extrahepatic biliary atresia in Indian tertiary settings.