Alpha-1 Antitrypsin Deficiency

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:

• Elevated liver enzyme levels
• Dark urine and pale stools
• Itching
• Enlarged liver
• Bleeding
• Feeding problems
• Poor growth or failure to thrive

Diagnosis of Alpha-1 Antitrypsin Deficiency

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:

• Blood tests. A variety of blood tests can check for genetic changes to the alpha-1 antitrypsin gene. Chemical panels can detect elevated liver enzymes and assess how well the liver is working.
• Ultrasound. An ultrasound is an imaging test that allows your child’s gastroenterologist to assess damage to the liver. This procedure may be done on a regular basis to detect changes in the liver over time.
• Liver Biopsy. A tissue sample is taken from the liver to check for inflammation and scarring caused by alpha-1 antitrypsin deficiency. If your child requires a liver biopsy, sedation medications or a general anesthetic will be given before the biopsy so he or she will not feel any pain or remember the procedure.