Biliary Atresia: advances and challenges in early diagnosis and management

To review current evidence on early diagnosis and initial management of biliary atresia, highlighting advances achieved in recent decades and the persistent challenges that continue to influence clinical outcomes.

Relevant literature was identified through structured searches of PubMed and other major biomedical databases, complemented by manual review of reference lists from key original studies, systematic reviews, and position papers addressing biliary atresia and neonatal cholestasis.

Biliary atresia remains a highly time-critical disease in pediatric hepatology, with outcomes strongly determined by age at surgical intervention. Population-based screening strategies, particularly stool color card programs, have shown meaningful reductions in age at surgery in selected regions, although their effectiveness is highly dependent on healthcare system organization and follow-up capacity. However, acholic stools remain a valuable sign for clinicians. Laboratory biomarkers such as gamma-glutamyl transferase and matrix metalloproteinase-7 provide complementary diagnostic support. Imaging modalities and liver biopsy continue to play essential roles in the diagnostic work-up. However, several commonly used tests predominantly reflect advanced disease and may be less informative in the earliest stages. Evidence supporting postoperative adjuvant therapies remains heterogeneous, with ongoing controversies regarding their impact on long-term native liver survival.

Despite important advances, early diagnosis of biliary atresia remains challenging in many settings. Integrating clinical vigilance with the judicious use of screening strategies, biomarkers, and diagnostic procedures is essential to optimize outcomes. Continued efforts are needed to refine early diagnostic pathways and to address persistent gaps in evidence, standardization, and access to specialized care.