Outcomes of liver transplantation for Alagille syndrome after Kasai portoenterostomy: Alagille Syndrome with agenesis of extrahepatic bile ducts at porta hepatis

Background Alagille syndrome (ALGS) is an autosomal dominant disorder, characterized by a paucity of intrahepatic bile ducts, resulting in significant cholestasis, and peculiar extrahepatic features. Some ALGS patients show a considerable overlap with biliary atresia (BA), and they can undergo Kasai procedure. The purpose of this study is to show the manifestations of BA overlapped ALGS cases in our institution, and to compare the outcomes of ALGS patients following liver transplantation (LT) between those who previously underwent Kasai surgery (ALGS-Kasai group) and those who did not (ALGS-non-Kasai group). Methods Medical records of ALGS patients who underwent LT in Kyoto University Hospital, Japan from January 1992 to March 2018 were analyzed. ALGS diagnosis was determined according to physical, radiologic, and histopathological findings. Results Thirty-one patients were ascertained (ALGS-Kasai: 4 males and 5 females vs. ALGS-non-Kasai: 14 males and 8 females, p = 0.43). Of 31 ALGS patients, 96.8% of children had pulmonary artery stenosis, 54.8% showed facial features, 29% revealed skeletal anomalies and 9.7% demonstrated ocular anomalies. The age at LT was significantly younger in ALGS-Kasai than ALGS-non-Kasai group (1.47 [interquartile range (IQR), 0.75–1.92] vs. 5.1 [IQR, 1.4–9.29] years; p = 0.038). Overall patient survival did not significantly differ between ALGS-Kasai (88.9%) and ALGS-non-Kasai patients (86.4%) (p = 0.84). Furthermore, the 1-year, 5-year, and 10-year patient survival rates for ALGS-Kasai group were 100%, 88.9%, and 88.9%, respectively, whereas those for ALGS-non-Kasai group were 90.9%, 90.9%, and 86.4%, respectively, with p-values of 0.36, 0.90, and 0.84, respectively. Conclusions BA overlapped ALGS cases had neonatal progressive cholestasis which prompted Kasai procedure, and early liver dysfunction after Kasai led to performing LT. The ALGS-Kasai patients undergo LT at earlier ages than the ALGS-non-Kasai patients, however, overall patients' survival rates are similar between groups. Overall ALGS patients' survival rate after LT is considered high. Levels of Evidence Level III; Case–control study or Retrospective comparative study.