Definition

Alpha 1 anti-trypsin (AAT) deficiency is a rare genetic disorder that causes the enzyme AAT to not work well. It can cause lung and liver disease in children and adults.

Causes

AAT deficiency is an inherited disorder. It is passed from parents to children. This condition occurs when the liver does not make useful AAT. AAT is a protein that protects the lungs and other organs from damage. When functional AAT levels are too low, lung damage may occur.

People with AAT deficiency can also develop liver disease. AAT deficiency is one of the major causes of genetic liver disease in children. The liver makes an abnormal version of AAT protein that builds up in the liver. This blockage can damage liver cells. In some cases, severe liver damage can occur.

Risk Factors

If either of your parents have the gene for AAT deficiency, you are at risk of developing problems due to the disease. If both your parents carry the gene, you are at higher risk of having severe problems.

Symptoms

The first symptoms of the disease often appear in adulthood between the ages of 20-50 years:

• Shortness of breath during mild activity
• Coughing up sputum (mucus from deep in the lungs)
• Wheezing
• Weight loss
• Lung disease that affects the air sacs—emphysema
• Raised red spots on the skin—panniculitis

In addition, if the liver is affected in adults, the following symptoms may be present:

• Itching
• Yellowing of the skin and/or whites of the eyes—jaundice
• Vomiting
• Swollen abdomen
• Abdominal pain

Symptoms in children can occur in the first weeks of life or later in childhood.

• Infants:
  • Jaundice
  • Failure-to-thrive
  • Foul-smelling stools
  • Swollen abdomen
  • Vomiting
  • Itching

• Older children:
  • Fatigue
  • Poor appetite
  • Swollen abdomen

Diagnosis

Your doctor will ask about your symptoms and medical history and do a physical exam. Your doctor may refer you to a doctor who specializes in the lungs or liver, depending on the symptoms you are having.

Tests may include the following:

• Blood tests—to examine if AAT levels in the blood are low
• Chest x-ray—to evaluate the lungs
• Genetic testing—to identify the inherited change that causes AAT
• Liver biopsy —a small piece of the liver is removed and examined for inflammation or scarring

Treatment

Talk with your doctor about the best treatment plan for you. Treatment options include the following:

Prevention

You cannot prevent AAT deficiency if you have inherited the condition. If you have AAT deficiency you can reduce your chance of emphysema:

• Quit smoking
• Avoid exposure to secondhand smoke
• Avoid exposure to air pollution or irritants
• Wear protective gear if exposed to irritants or toxins at work

American Lung Association http://www.lungusa.org/

The Lung Association http://www.lung.ca/cts-sct

Alpha-1 antitrypsin deficiency. The Merck Manual Professional Edition website. Available at:
http://www.merckmanuals.com/professional/pulmonary_disorders/chronic_obstructive_pulmonary_disease_and_related_disorders/alpha-1_antitrypsin_deficiency.html
Accessed June 2014. Accessed February 9, 2015.

Alpha-1 anti-trypsin deficiency (AAT). EBSCO DynaMed website. Available at:
http://www.ebscohost.com/dynamed
Updated June 13, 2014. Accessed February 9, 2015.

COPD. EBSCO DynaMed website. Available at:
http://www.ebscohost.com/dynamed
Updated January 15, 2015. Accessed February 9, 2015.

Hericks AJ. An overview of alpha-1 antitrypsin deficiency. Mo Med. 2007;104(3): 255-259.