Alpha-1 Antitrypsin Deficiency

Alpha-1 antitrypsin deficiency (AATD) is an inherited condition that causes low levels of, or non-existent levels of alpha-1 antitrypsin (AAT) in the blood. AATD occurs in approximately 1 in 2,500 individuals. Alpha-1 antitrypsin is a protein that is made in the liver. The liver releases this protein into the bloodstream where it travels to the lungs and protects the lungs against damage.

AATD is a genetic condition that is passed on from parents to their children through genes. Genes are codes that are found on chromosomes, the genetic material in each cell in our bodies. Each person receives two genes for each trait in their body: one gene from their mother and one from their father. The alpha-1 genes control how the liver makes the protein called alpha-1 antitrypsin (A1AT). Everyone has two copies of the gene for AAT and receives one copy of the gene from each parent. Most people have two normal copies of the alpha-1 antitrypsin gene. A person with Alpha-1 antitrypsin deficiency (AATD) has one normal copy and one damaged copy, or they have two damaged copies. A person who has one normal gene can produce enough alpha-1 antitrypsin to be healthy, unless they smoke. A person who has two damaged copies of the gene is not able to produce enough alpha- 1 antitrypsin, which produces lung disease and sometimes liver disease.

If someone has two abnormal alpha-1 genes, then the liver makes a form of the protein, A1AT that becomes trapped in the liver and is not released into the blood. The build-up of the A1AT protein in the liver can cause the liver to build up scar tissue.
Without enough AAT, the lungs can be damaged, which makes normal breathing impossible and emphysema and chronic obstructive lung disease develops.

What are the signs of alpha-1 antitrypsin deficiency (AATD)?

AATD can manifest as lung disease in adults and can cause liver disease in a small portion of affected children.

Cirrhosis (scarring) of the liver is another sign of AATD. It can be present in around 10% of children with AATD and around 15 percent of adults with AATD.

Symptoms of AATD in infants and children can include jaundice (eyes and skin turning yellow), swelling of the liver, diarrhea, poor growth and enlarged liver or spleen. These are the types of symptoms that may occur later in childhood or in adults with Alpha-1 liver disease. Most children and adults with AATD have no symptoms of liver disease at all.

Rarely, AATD can cause a skin disease known as panniculitis, which manifests as hardened skin with painful lumps or patches. Panniculitis varies in severity and can occur at any age.

Diagnosis of alpha-1 antitrypsin deficiency (AATD)

Alpha-1 Antitrypsin Deficiency (AATD) is diagnosed with a blood test and this test is quick and very accurate. Three different things are tested on the blood sample:

  • Alpha-1 antitrypsin level test, which measures the amount of AAT in a person’s blood.
  • Alpha-1 genotyping, which examines a person’s genes to determine their genotype.
  • Alpha-1 antitrypsin phenotype test, which determines the type of AAT protein present.

People who have symptoms of lung and/or liver disease or who have a family history of AATD should consider being tested.

Outlook of AATD

Of all babies who are born with two damaged alpha-1 genes –

  • About 1 in 20 will get liver disease in the first year of life which may be serious and cause scarring of the liver.
  • About 1 in 4 will have blood tests showing that the liver is being injured, however, the infants will be healthy and look normal and in most cases, the liver disease improves naturally by the time these children reach their teenage years and they stay in good health.

Adults with AATD can get liver disease, most commonly cirrhosis. This is more common in those over 50 years of age. People with AATD have up to a 30-40% chance of developing a liver problem such as cirrhosis or liver cancer during their lifetime.

There is wide variation in how sick people get from Alpha-1. Some patients have serious problems if the liver is affected, while others have little or no liver disease. Some infants may have rather quick scarring of the liver that leads to the need for a liver transplantation in the first few years of life. However, this is rare and most children affected with Alpha-1 liver disease do well and reach adulthood without major liver problems. Lung problems from Alpha-1 do not occur in childhood, but it is very important for children with Alpha-1 to avoid all exposure to cigarette smoke or heavy air pollution to protect their lungs. It is best to talk with your doctor to figure out how your Alpha-1 might turn out and what can be done to protect the lungs and liver.

Treatment of alpha-1 antitrypsin deficiency (AATD)

Treatment of alpha-1 antitrypsin deficiency (AATD) depends on the symptoms. There is currently no cure and the main focus is the prevention of severe lung disease and the prevention of liver disease.

Treatments include physiotherapy and breathing and coughing exercises. Puffers, inhalers and nebulizers to dilate the bronchial tubes are needed. It is essential to stop smoking and to also avoid passive smoking. Avoid living in polluted cities and choose rural areas near the ocean.

Replacement of the missing AAT protein can be given to some adults with severe lung damage who are treated with “intravenous A1AT replacement.” This means they are given A1AT protein through a needle into a vein. It is not known how effective this is once lung disease has fully developed. Unfortunately, this treatment is not helpful in reducing or preventing damage to the liver.

In severe liver disease a transplant may be needed. A liver transplant is surgery to remove a diseased liver and replace it with a healthy liver from another person.


Supplements can help to reduce the inflammation which causes lung and liver damage. The most important antioxidants are:

  • Selenomune 
    Take one capsule daily.
  • MSM Plus Vitamin C powder
    Take one teaspooon daily.
  • Vitamin E
  • Vitamin D
  • N-Acetyl-Cysteine (NAC) 
    NAC may make a big improvement in lung and liver symptoms and high doses may be needed. It is recommended to take capsules containing 600mg of NAC  in a dose of 2 capsules twice daily; more may be required. Although a prescription is not needed, talk to my naturopath, Christine, at 623-334-3232 or email us or talk to your own doctor about these exciting nutritional strategies.

The above statements have not been evaluated by the FDA and are not intended to diagnose, treat or cure any disease.


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