Subsume synonym3/24/2023 Management of Alagille syndrome: a review. Berniczei-Royko A, Chałas R, Mitura I, Nagy K, Prussak E.These individuals do not have liver disease or other features typical of the disorder. Some people with Alagille syndrome may have isolated signs of the disorder, such as a heart defect like tetralogy of Fallot, or a characteristic facial appearance. Symptoms range from so mild as to go unnoticed to severe heart and/or liver disease requiring transplantation. The severity of the disorder varies among affected individuals, even within the same family. Problems associated with Alagille syndrome generally become evident in infancy or early childhood. Affected individuals may have an unusual butterfly shape of the bones of the spinal column (vertebrae) that can be seen in an x-ray. The disorder may also affect the blood vessels within the brain and spinal cord (central nervous system) and the kidneys. People with Alagille syndrome may have distinctive facial features including a broad, prominent forehead deep-set eyes and a small, pointed chin. This combination of heart defects is called tetralogy of Fallot. Pulmonic stenosis may occur along with a hole between the two lower chambers of the heart ( ventricular septal defect ) and other heart abnormalities. 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).Īlagille syndrome is also associated with several heart problems, including impaired blood flow from the heart into the lungs (pulmonic stenosis). 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. In Alagille syndrome, the bile ducts may be narrow, malformed, and reduced in number (bile duct paucity). These ducts carry bile (which helps to digest fats) from the liver to the gallbladder and small intestine. One of the major features of Alagille syndrome is liver damage caused by abnormalities in the bile ducts. Alagille syndrome is a genetic disorder that can affect the liver, heart, and other parts of the body.
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