Background and aims: Alagille syndrome (ALGS) is a multisystem disorder that is often confused with biliary atresia (BA) shortly after birth. This study aimed to identify criteria for early distinction between these two diseases.
Methods: Patients with confirmed ALGS and BA were retrospectively enrolled in this study. Clinical data, biochemical results, ultrasound findings, and genetic testing results were analyzed.
Results: A total of 14 patients with ALGS under 3 months of age were included in this study, and compared with 28 age- and sex-matched patients with BA. (1) Clinical features: significant differences in cardiac structural abnormalities and distinctive facial features were observed. (2) Biochemical indicators: both groups showed increased lactate dehydrogenase (LDH) and gamma-glutamyl transferase (GGT) levels; the GGT level of the ALGS group (304.75 U/L) was lower than that of the BA group (515.00 U/L), while the LDH level was higher; Fibrinogen (FIB) and prothrombin time (PT), though normal, showed significant differences. (3) Ultrasonography: ALGS patients had a lower gallbladder abnormality rate (64.3%, 9/14) than BA patients (96.4%, 27/28) (p < 0.05); the incidence of hepatomegaly and splenomegaly in ALGS patients was significantly lower than that in BA (p < 0.05).
Conclusion: For infants less than three months of age with high GGT cholestasis, attention should be paid to whether there are facial features, hepatomegaly, splenomegaly, gallbladder abnormality, and skeletal and heart abnormalities, which combined with GGT, LDH, FIB, and PT, can serve as criteria for early distinction of the two diseases.