Alpha-1 antitrypsin is a protein made by the liver that helps block the actions of bad proteins related to inflammation and breakdown of tissues. A gene defect can cause a shortage of the alpha-1 antitrypsin protein which leads to damage of the liver and lungs. However, many people with alpha-1 antitrypsin deficiency do not know they have the condition, and many with the defect never develop liver disease.
Those patients that do develop liver disease can have jaundice (yellowing of the skin and whites of the eyes), cirrhosis and portal hypertension and, potentially, liver failure later in life. Less than half of infants with jaundice from alpha-1 antitrypsin deficiency develop chronic liver disease later in life. Defects in this gene can also cause lung problems, such as emphysema, bronchitis and repeated lung infections. However, the lung problems do not present until adulthood.
Alpha-1 antitrypsin deficiency is a genetic condition, meaning it is transmitted through an abnormal gene from parent to child. This gene is an autosomal recessive gene, which means that if the mom and the dad both carry the gene, 1 out of 4 of their children will inherit alpha-1 antitrypsin deficiency. Not everyone with alpha-1 antitrypsin deficiency develops liver disease. A large study in Sweden revealed that only 15 percent of people who have the genetic defect develop liver disease. It is not clear yet why some people develop disease and others do not, but there is ongoing research to help understand this.
The first sign of alpha-1 antitrypsin deficiency in infants or older children is often jaundice that does not resolve after birth. Infants who develop jaundice secondary to alpha-1 antitrypsin deficiency usually have resolution of the jaundice within the first year of life. Other symptoms may include:
If your child has symptoms of alpha-1 antitrypsin deficiency, a pediatric gastroenterologist can make a diagnosis with a simple blood test. Other tests may be done to evaluate evidence of liver injury from the disease. Tests include:
There is no treatment for alpha-1 antitrypsin deficiency. Scientists are actively working to discover a treatment for this liver disease. However, your child’s gastroenterologist will work with you and your child to manage symptoms. Management of the condition includes:
Visit the websites below to find support groups and services and learn more about alpha-1 antitrypsin deficiency.
Riley at IU Health offers a broad range of supportive services to make life better for families who choose us for their children's care.
This website provides resources for alpha-1 antitrypsin deficiency patients and their families as well as for physicians and researchers.
The American Liver Foundation website provides educational information about alpha-1 antitrypsin and support resources for patients and families.
The North American Society for Pediatric Gastroenterology, Hepatology and Nutrition provides patient outreach and education for children and families who live with alpha-1 antitrypsin deficiency.
This website offers information about current research on childhood liver diseases, including alpha-1 antitrypsin deficiency.
Pediatric specialists at Riley at IU Health are actively studying alpha-1 antitrypsin deficiency to better understand the condition. Ask your child's doctor for more information about our current research initiatives.
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