Pharmacy Clinical Pearl of the Day: Alagille Syndrome

Author(s):

Approximately 75% of people diagnosed with Alagille syndrome in childhood live to at least 20 years of age.

Clinical Pearl of the Day: Alagille Syndrome

Alagille syndrome is an inherited disorder that closely resembles other forms of liver disease seen in infants and young children.

Insight:

Alagille syndrome causes liver damage. The liver produces bile to help remove waste from the body. It also helps digest fats and the fat-soluble vitamins A, D, E, and K. The body can use these vitamins only if they are combined with fat from the foods people eat. Bile ducts are the channels that move bile out of the liver.
If a person does not have enough of these ducts, bile builds up in the liver, which damages liver tissues and ultimately can cause the liver to fail.
Approximately 75% of people diagnosed with Alagille syndrome in childhood live to at least 20 years of age.
Causes: Alagille syndrome is related to the JAG1 gene mutation.
Symptoms include yellowish skin or eyes, itchy skin, delayed growth, hard skin bumps, heart murmur, and changes in the blood vessels.
Treatment may include medications to increase bile flow (ursodeoxycholic acid), cholestyramine, rifampin, and naltrexone. Also, biliary diversion procedures that can help interrupt the normal bile circulation. Vitamin and special nutrition supplementation to support proper growth and development.
Infants with Alagille syndrome are given a special formula that helps the small intestine absorb fats. The diet usually is high in calories, calcium, and with vitamins A, D, E, and K, and sometimes zinc.
Liver transplantation, kidney surgery, and heart surgery may be other alternatives to correct any defects.

Sources: