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What is Alagille syndrome?
Alagille syndrome is a genetic disorder that can affect the liver, heart, and other systems of the body.
Signs and symptoms arising from liver damage in Alagille syndrome may include a yellowish tinge in the skin and the whites of the eyes (jaundice), itching, and deposits of cholesterol in the skin (xanthomas). A liver biopsy may indicate too few bile ducts (bile duct paucity). These ducts carry bile (which helps to digest fats) from the liver to the gallbladder and small intestine.
Heart problems associated with Alagille syndrome may include impaired blood flow
How common is Alagille syndrome?
The estimated prevalence of Alagille syndrome is 1 in every 70,000 people. This figure is based on diagnoses of liver disease in infancy, and may be an underestimation due to the varying severity and symptoms of the disorder. The prevalence of this disorder could be as high as 1 in 20,000 people if the frequency of gene mutations that cause Alagille syndrome is considered.
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www.sos.se
Socialstyrelsen, Stockholm, Sweden
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tray.dermatology.uiowa.edu
Dept. of Dermatology - University of Iowa College of Medicine
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Diseases
Congenital, Hereditary, and Neonatal Diseases and Abnormalities