Elevated direct bilirubin level in newborns might be a highly sensitive and specific biomarker of cholestatic liver disease, a common symptom of Alagille syndrome (ALGS), according to a study published in JPGN reports.
The goal of the study was to identify a highly sensitive and specific cutoff value of direct bilirubin that could be used to predict cholestatic liver disease in newborns, as well as to investigate the appropriateness of follow-up care in the United States for newborns with elevated direct bilirubin.
The researchers collected baseline data from 11,965 infants born between 2016 and 2019 who had serum total bilirubin and direct bilirubin drawn in the nursery and who were continuously followed in the US health system. They examined the sensitivity, specificity, and positive and negative predictive values of direct bilirubin for identifying infants at risk for cholestatic liver disease using cutoff values of 0.5, 0.6, and 0.7 mg/dL.
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Moreover, the researchers reviewed the patients’ charts to discover their follow-up direct bilirubin levels drawn by the pediatrician or hepatology team within 2 months of age and whether they were eventually diagnosed with cholestatic liver disease.
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According to the results, 3 newborns were diagnosed with cholestatic liver disease: 2 of them had biliary atresia and 1 had ALGS.
Direct bilirubin cutoff values of 0.5, 0.6, and 0.7 mg/dL had a sensitivity of 100% and specificity of 96.83%, 99.08%, and 99.63%, respectively. As the 0.6 mg/dL direct bilirubin value had a sensitivity of 100% and specificity of 99%, the researchers identified it as the cutoff value to monitor for direct bilirubin follow-up and diagnosis of cholestatic liver disease.
Although 60 newborns in the cohort had direct bilirubin levels of at least 0.6 mg/dL, only 15 (25%) had their direct bilirubin levels checked after nursery discharge. Furthermore, 3 (5%) were diagnosed with cholestatic liver disease.
“Currently, infants with cholestatic liver disease may not be identified until later physical findings of significant jaundice, acholic stools, or hepatosplenomegaly, which can delay the onset of work-up and diagnosis. Although biliary atresia meets disease-specific criteria warranting newborn screening, there is currently no widely accepted screening approach for biliary atresia in the United States,” Lerer and colleagues noted.
“Further studies are needed to standardize the follow-up for these infants and to improve the cost-effectiveness of testing and implementation of serum bilirubin as a national screening for cholestatic liver disease.“
Reference
Lerer R, Barash L, Nafday S, Kogan Liberman D, Ovchinsky N. Evaluation of newborn direct bilirubin as screening for cholestatic liver disease. JPGN Rep. Published online August 24, 2023. doi:10.1097/PG9.0000000000000345
