Syndromic biliary atresia: Characterisation and long-term outcomes

Biliary atresia (BA) has a known association with other anomalies and specifically the Biliary Atresia Splenic Malformation syndrome (BASM) in about 10-20% of infants in Western series. We aimed to analyse the effect of BASM and other anomalies on long-term outcome.

Single-centre prospective database, using 2:1 isolated BA (IBA) as contemporaneous controls. The effect of various sub-groups (specifically cardiac) was also analysed. Clearance of jaundice (COJ) post Kasai-portoenterostomy (KPE) was defined as bilirubin <20 μmol/L. Overall survival (OS) and native liver survival (NLS) were calculated. Data were quoted as median (IQR) and non-parametric comparisons (KW and MW tests) used throughout. P≤0.05 defined significance.

During the period 1990 - 2024 there were BASM (n = 97); BA and other anomalies (Anomalies) (n = 64) and isolated BA (used as controls) (n=252). Median follow-up was 9.1, 8.9 and 10.4 yrs. respectively. There were no differences in age at KPE [51 (40-69) vs. 54 (37- 67) vs. 54 (43 - 69) days - P = 0.25)] or COJ post-KPE [BASM - 56/94 (59.6%) vs. Anomalies 36/61, (58%) vs. controls - 148/252, (58.7%); P = 0.93]. Overall survival was significantly reduced in both BASM and Anomalies groups (vs. IBA P < 0.0001), though there was no significant difference in NLS between the three groups (P = 0.14). The BASM and Anomalies groups were then sub-divided and NLS and OS calculated. Significant reduction in survival was only seen in the BASM + cardiac cohort (n = 19) (P<0.0001) but not the Anomalies + cardiac cohort (n=11) (P=0.85). There was no influence in the BASM group on outcome of either situs inversus (P=0.49) or preduodenal portal vein (P=0.38).

Initial response in terms of clearance of jaundice to KPE is excellent in all groups with comparable long-term NLS. There is a reduction in overall survival in both BASM and Non-BASM Anomalies cohorts compared to those with IBA but only in the former is this due to cardiac anomalies.