prevention
Alagille syndrome is a disease caused by genetics, so it cannot be prevented.
diagnosis
Diagnosis can be established by microscopic examination of liver biopsy specimens, a stethoscope examination of the child’s heart and chest, a special eye examination (slit-lamp exam), an x-ray of the spinal column and an ultrasound examination of the abdomen. Genetic testing can also be performed to confirm unusual or mild cases.
treatment
Treatment of Alagille syndrome is primarily medical and not surgical and is based on trying to increase the flow of bile from the liver, maintain normal growth and development, and prevent or correct any of the specific nutritional deficiencies that often develop.
- Medications are often prescribed to increase bile flow to improve digestion of fats and fat-soluble vitamins.
- Medications such as ursodeoxycholic acid and cholestyramine can help relieve itches caused by the buildup of bile in the blood and skin.
- Increasing the amount of medium-chain triglycerides (MCTs) to formula for infants is often recommended as this can form of fat can be well digested for individuals with Alagille syndrome and provides essential nutrients.
- Increasing the amount of fat-soluble vitamins (A, D, E, K) since problems with fat digestion and absorption can lead to deficiencies in these essential vitamins. Deficiencies of these vitamins can be diagnosed by blood tests and usually can be corrected by vitamin supplements.
- There is presently no procedure that can correct the loss of the bile ducts within the liver. In 20 to 30 per cent of patients, liver cirrhosis advances to a stage where the liver fails to perform its functions. Liver transplantation is then considered.
The overall life expectancy for children with Alagille syndrome is unknown, but depends on several factors: the severity of scarring in the liver and/or the need for liver transplantation, the risk of stroke and whether heart or lung problems develop because of the narrowing in the pulmonary artery.
