Genetic condition awaiting consideration - Alagille Syndrome
Alagille syndrome is an autosomal dominant condition. One of the major features is liver damage caused by abnormalities in the bile ducts. These ducts carry bile (which helps to digest fats) from the liver to the gallbladder and small intestine. In Alagille syndrome, the bile ducts may be narrow, malformed, and reduced in number (bile duct paucity). As a result, bile builds up in the liver and causes scarring that prevents the liver from working properly to eliminate wastes from the bloodstream. 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), itchy skin, and deposits of cholesterol in the skin (xanthomas).
Abnormalities of the heart, skeleton, eye and kidneys are also present and sometimes mild to moderate mental retardation. The 20 year survival rate is ~75% but this is reduced to 60% for those requiring liver transplant and 40% for those with significant intracardiac lesions.
Have your say on conditions awaiting consideration
If you have any feedback on the genetic conditions awaiting consideration by the HFEA, send us an email and we will discuss your comments at the next Licence Committee.
Email: pgd@hfea.gov.uk
Page last updated: 14 January 2013