Most people with Alagille syndrome symptoms will exhibit signs of liver disease in infancy but, because the disorder manifests itself differently from person to person, some carriers of a gene mutation may have no detectable liver disease. Those with liver disease may experience a wide range of symptoms, most as a result of cholestasis (reduction of bile flow):
Pruritus and xanthomata can have a significant impact on quality of life. Pruritus can disturb sleep and attention in school. Xanthomata may be cosmetically disfiguring and, depending on their location, may interfere with certain activities.
Bile flow may be stimulated with ursodeoxycholic acid, but in many patients the pruritus continues. Care should be taken to keep the skin hydrated with emollients, and fingernails should be trimmed to avoid skin damage from itching. Baths should be avoided as they dry out the skin and short showers are recommended, especially in winter months. Therapy with antihistamines may provide some relief, but many patients require additional therapy with agents such as rifampin or naltrexone. Biliary diversion has been successful in a limited number of patients but pruritus continues to be an indication for transplantation in some patients.
The severity of liver disease in Alagille syndrome typically peaks by 3 to 5 years of age and often resolves by 7 to 8 years of age. In some people, the hepatic disease will progress to end-stage liver disease and may require liver transplantation. Approximately 15 percent of patients with Alagille syndrome require liver transplantation. We currently have no way of predicting which children who have liver disease in infancy will progress to end-stage liver disease and in which children the cholestasis will resolve.
To learn more about liver transplant, visit our Liver Transplant Program
Reviewed by: Binita M. Kamath, MD
Date: January 2009