Outcome of liver disease in children with Alagille syndrome: a study of 163 patients

Background and aims-Various opinions have been expressed as to the long ter m prognosis of liver disease associated with Alagille syndrome (AGS). Patients and methods-We reviewed the outcome of 163 children with AGS and l iver involvement, investigated from 1960 to 2000, the end point of the stud y (median age 10 years (range 2 months to 44 years)) being death, liver tra nsplantation, or the last visit. Results-At the study end point, of the 132 patients who presented with neon atal cholestatic jaundice, 102 remained jaundiced, 112 had poorly controlle d pruritus, and 40 had xanthomas; cirrhosis was found in 35/76 livers, vari ces in 25/71 patients, and liver transplantation had been carried out in 44 patients (33%). Forty eight patients died, 17 related to complications of liver disease. Of 31 patients who did not present with neonatal cholestatic jaundice, five were jaundiced at the study end point, 17 had well controll ed pruritus, and none had xanthomas; cirrhosis was found in 6/18 patients, varices in 4/11, and none underwent liver transplantation. Nine patients di ed, two of liver disease. In the whole series, actuarial survival rates wit h native liver were 51% and 38% at 10 and 20 years, respectively, and overa ll survival rates were 68% and 62%, respectively. Neonatal cholestatic jaun dice was associated with poorer survival with native liver (p=0.0004). Conclusions-The prognosis of liver disease in AGS is worse in children who present with neonatal cholestatic jaundice. However, severe liver complicat ions are possible even after late onset of liver disease, demanding follow up throughout life.