Liver Disease in Alagille Syndrome

  • Alyssa Kriegermeier
  • Andrew Wehrman
  • Binita M. KamathEmail author
  • Kathleen M. LoomesEmail author


Hepatic disease in Alagille syndrome manifests with a wide range of clinical severity, even in patients with the same genetic mutation. Liver disease commonly presents in the neonatal period during evaluation for cholestasis with elevated bilirubin and GGT. The classic finding on liver biopsy is bile duct paucity; however, this is not diagnostic and not all children with Alagille syndrome have paucity on liver biopsy. There are specific clinical criteria for diagnosis of Alagille syndrome, including bile duct paucity on liver biopsy; however with the availability of genetic testing, not all criteria have to be met for the diagnosis in a patient with known genetic mutation or positive family history. In contrast to some other pediatric liver disorders, ALGS liver disease can improve over the first several years of life. Despite this, in some children cholestasis can progress to end-stage liver disease, cirrhosis, portal hypertension, and eventual need for liver transplantation. There is no specific treatment for hepatic disease in Alagille syndrome, and management focuses on treatment of symptoms of chronic cholestasis, including pruritus, xanthomata, malnutrition, and fat-soluble vitamin deficiencies. Surgical therapies, such as external biliary diversion, are used in children when medical management of cholestasis fails, although these procedures are not effective in all children. Ultimately if liver disease progresses to cirrhosis and complications of portal hypertension, liver transplant may be indicated.


Cholestasis Bile duct paucity Cholestasis management Pediatric liver disease 


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Copyright information

© Springer International Publishing AG, part of Springer Nature 2018

Authors and Affiliations

  1. 1.Department of Pediatrics, Division of Gastroenterology, Hepatology and NutritionThe Children’s Hospital of PhiladelphiaPhiladelphiaUSA
  2. 2.Division of Gastroenterology, Hepatology and NutritionThe Hospital for Sick ChildrenTorontoCanada
  3. 3.Department of PediatricsUniversity of TorontoTorontoCanada
  4. 4.Department of PediatricsChildren’s Hospital of Philadelphia and Perelman School of Medicine, University of PennsylvaniaPhiladelphiaUSA

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