Alagille syndrome history and symptoms
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Overview
Alagille syndrome is a multisystem genetic disorder that affects the liver, heart, eyes,face, skeleton, kidneys and vascular system. The severity of the disorder can vary within the same family, with symptoms ranging from so mild as to go unnoticed to severe heart and/or liver disease requiring transplantation.
Symptoms
The most common symptom of Alagille syndrome is itching which is due to cholestasis, due to bile duct paucity as seen on liver biopsy.The symptoms of Alagille syndrome and their severity vary, even among people in the same family.
Liver symptoms
- Infants with Alagille syndrome may have symptoms of liver disease and poor bile drainage from the liver in the first few weeks of life. These symptoms can also occur in children and adults with Alagille syndrome.
- Jaundice. Bilirubin is the pigment that gives bile its reddish-yellow color. Jaundice occurs when the bilirubin content in the blood rises, causing yellowing of the skin and whites of the eyes. High levels of bilirubin in the blood can darken the urine, while stools may become pale, gray, or white from a lack of bilirubin in the intestines. Many healthy newborns have mild jaundice due to immaturity of the liver. This type of jaundice disappears by the second or third week of life, whereas the jaundice of Alagille syndrome remains. Infants with jaundice that persists should be checked by a doctor.
- Pruritus. The buildup of bilirubin in the blood may cause itching, also called pruritus. Pruritus usually starts after 3 months of age and can be severe.
- Malabsorption and growth problems. People with Alagille syndrome may have diarrhea because of malabsorption, a condition in which the bowel does not properly absorb fats and fat-soluble vitamins. Malabsorption occurs because bile is necessary for their digestion. Malabsorption can lead to failure to thrive in infants and poor growth and delayed puberty in older children. People with Alagille syndrome and malabsorption may develop bone fractures, eye problems, blood-clotting problems, and learning delays.
- Xanthomas. Xanthomas are fatty deposits that appear as yellow bumps on the skin. They are caused by abnormally high cholesterol levels in the blood, which is common in people with liver disease. Xanthomas are found on the abdomen, knees, elbows, hands, and around the eyes and are harmless.
Unique symptoms
Alagille syndrome can affect other parts of the body in ways that may help doctors distinguish it from other liver conditions.
- Heart. A heart murmur is the most common sign of Alagille syndrome other than liver disease. Most people with Alagille syndrome have a narrowing of the pulmonary arteries, which carry blood from the heart to the lungs. This narrowing causes a murmur that can be heard with a stethoscope, but usually it does not cause problems. A small number of people with Alagille syndrome have more serious heart conditions involving problems with the walls or the valves in the heart. The more serious conditions may require medications and corrective surgery.
- Face. Many children with Alagille syndrome have deep-set eyes; a straight nose; a small, pointed chin; and a prominent, wide forehead. These features are not usually recognized until after infancy. The face typically changes with age, and by adulthood the chin is more prominent.
- Eyes. Posterior embryotoxon is a condition in which an opaque ring is seen in the cornea, the transparent covering of the eyeball. A specialist performs an eye examination, called the slit lamp test, to look for the condition. The abnormality is common in people with Alagille syndrome and usually does not affect vision.
- Skeleton. The shape of the bones of the spine may look abnormal on an x ray, but this abnormality rarely causes spine problems.
- Kidneys. A wide range of kidney diseases can occur in Alagille syndrome. Some people have small kidneys or cysts in the kidneys. The kidneys can also have decreased function.
- Spleen. The spleen is a small abdominal organ that cleans blood and protects against infection. Blood flow from the spleen drains directly into the liver. When liver disease is advanced, the blood flow backs up into the spleen and other blood vessels. This condition is called portal hypertension. The spleen may enlarge in the later stages of liver disease. A person with an enlarged spleen should avoid contact sports to protect the organ from injury.
- Blood vessels. People with Alagille syndrome may have abnormalities of the carotid arteries—the blood vessels in the head and neck. This serious complication can lead to internal bleeding or stroke. If a person with Alagille syndrome suffers a head injury, prompt evaluation and magnetic resonance imaging (MRI) or a computerized tomography (CT) scan of the brain are needed to check for problems. Alagille syndrome can also cause narrowing or bulging of other blood vessels in the body.