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.
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.
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.
The first symptoms of the disease often appear in adulthood between the ages of 20-50 years: Shortness of breath during mild activityCoughing up sputum (mucus from deep in the lungs)WheezingWeight lossLung disease that affects the air sacsRaised red spots on the skin
In addition, if the liver is affected in adults, the following symptoms may be present:
ItchingYellowing of the skin and/or whites of the eyesVomitingSwollen abdomenAbdominal pain
Symptoms in children can occur in the first weeks of life or later in childhood.
Yellowing of the skin and/or whites of the eyes
Poor growth and weight gain
Foul-smelling stoolsSwollen abdomenVomitingItching
FatiguePoor appetiteSwollen abdomen
You will be asked about your symptoms and medical history. A physical exam will be done. You may be referred to a doctor who specializes in the lungs or liver, depending on the symptoms you are having.
Your bodily fluids and tissues may be tested. This can be done with:
Blood tests—to examine if AAT levels in the blood are lowGenetic testing—to identify the inherited change that causes AATLiver biopsy
—a small piece of the liver is removed and examined for inflammation or scarring
Images may be taken of your lungs. This can be done with a chest x-ray.
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Talk with your doctor about the best treatment plan for you. Treatment options include the following:
You may be prescribed medications to boost the levels of AAT. These may be given weekly through an IV in your arm. If you have emphysema, your doctor may treat you with inhaled steroids and other medications to improve your breathing.
If you smoke, your doctor will work with on ways to quit. Smoking can increase the damage to your lungs.
There is no specific treatment for liver disease due to AAT deficiency. Treatment focuses on symptoms and preventing complications. Treatment may include:
Vitamin supplements, such as E
KMedications to reduce itching and jaundiceRarely, a
You cannot prevent AAT deficiency if you have inherited the condition. If you have AAT deficiency, you can reduce your chance of emphysema: Quit smokingAvoid exposure to secondhand smokeAvoid exposure to air pollution or irritantsWear protective gear if exposed to irritants or toxins at work
Alpha-1 antitrypsin deficiency. National Jewish Health website. Available at:
http://www.nationaljewish.org/healthinfo/conditions/alpha-1. Accessed March 9, 2016.
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 March 9, 2016.
Hericks AJ. An overview of alpha-1 antitrypsin deficiency.
Mo Med. 2007;104(3): 255-259.
Last reviewed March 2016 by Michael Woods, MD
Please be aware that this information is provided to supplement the care provided by your physician. It is neither intended nor implied to be a substitute for professional medical advice. CALL YOUR HEALTHCARE PROVIDER IMMEDIATELY IF YOU THINK YOU MAY HAVE A MEDICAL EMERGENCY. Always seek the advice of your physician or other qualified health provider prior to starting any new treatment or with any questions you may have regarding a medical condition.
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