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Alpha-1 Antitrypsin Deficiency

What is alpha-1 antitrypsin deficiency?

Alpha-1 antitrypsin deficiency (or AAT deficiency) is a genetic condition that can lead to lung and liver disease. People with AAT deficiency may develop emphysema (a serious lung disease) and liver cirrhosis (scarring of the liver). Symptoms of AAT deficiency can include shortness of breath and wheezing, chronic cough, recurrent lung infections, and jaundice (yellowing of the skin).

Is AAT deficiency genetic?

Yes. AAT deficiency is caused by genetic variants (differences) in the SERPINA1 gene. The SERPINA1 gene contains instructions for making a protein called alpha-1 antitrypsin (AAT). This protein is made in the liver and is transported to the lungs where it helps protect lungs from damage.

Certain genetic variants in the SERPINA1 gene result in too little AAT protein getting transported to the lungs, and more AAT protein getting trapped in the liver. As a result, the lungs are less protected from damage, and the liver can become damaged as well.

Other factors can increase risk for lung and liver disease

For people with AAT deficiency, the chances of developing lung and liver disease also depend on lifestyle, environment, and other factors. For example, smoking increases the chances of developing the lung disease and can lower the age when symptoms start. Personal or family history of lung disease, and exposure to certain chemicals or pollutants can also increase the risk for lung disease. Certain infections can also increase the risk for liver disease. Consult with a healthcare professional before making any major lifestyle changes.

AAT deficiency often goes undiagnosed

Many people with AAT deficiency do not know they have the condition. In fact, it's estimated that fewer than 10% of people with AAT deficiency have been properly diagnosed.

Explore more

Want to learn more? The 23andMe Alpha-1 Antitrypsin Deficiency Genetic Health Risk report* can tell you if you may be at risk for lung and liver disease related to AAT deficiency based on your genetics. This report looks for two specific genetic variants in the SERPINA1 gene. These genetic variants are the two most common variants linked to AAT deficiency. This report is available through the 23andMe Health + Ancestry Service.

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