Alpha-1 Antitrypsin Deficiency (AATD)

Alpha-1 antitrypsin deficiency (AATD) is a hereditary condition (passed down in families) that can cause liver and lung disease.

Alpha-1 antitrypsin is a type of protein made in the liver. It protects the lungs and allows them to work normally. In children with AATD, their liver does not make the correct form of this protein. Over time, not having enough of this protein can cause lung disease. And a build-up of this abnormal protein in the liver can lead to liver disease.

AATD can affect people differently. The liver and lung disease caused by AATD can range from mild to severe. Some people with the condition may have few or no problems with their liver.

Some common symptoms in children may include:

• Jaundice (yellowing of the skin and eyes)
• Severe itchiness
• Dark urine or pale-colored stool
• Delayed growth or poor weight gain
• Enlarged liver
• Bleeding
• A buildup of fluid in the stomach
• Feeling tired

Please note there are many conditions that have similar symptoms. It’s important to see your child’s doctor for proper diagnosis and treatment.

AATD is caused by a gene mutation that passes from parent to child. In most cases, both parents need the gene mutation to pass the condition to their child. Children who inherit only one gene mutation are less likely to develop AATD, but could pass it along to their children.

How is AATD diagnosed?

A simple blood test (AAT level) can be done to measure how much alpha-1 antitrypsin is circulating in the blood. Another blood test (AAT mutation analysis) can tell whether a person has AATD or is a carrier.

It is very important that a child with AATD avoids smoking and is not exposed to second-hand smoke.