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Alpha-1 Patient Dee Meisner)

Alpha 1 Antitrypsin Deficiency

Alpha 1 Antitrypsin Deficiency

What is Alpha 1 Antitrypsin Deficiency?

Alpha 1 is the common name for a genetic condition called Alpha 1 Antitrypsin Deficiency. If you have Alpha 1, your body is unable to produce a protein known as Alpha 1 Antitrypsin, or AAT for short. This protein plays an important role in protecting your lungs from damage due to excessive inflammation. Without this protein present in your blood, your lungs may weaken over time and place you at a higher risk for developing serious diseases, such as early-onset emphysema often misdiagnosed as chronic obstructive pulmonary disease (COPD). An abnormal amount of AAT in the liver can also cause liver disease.

  • 1 in 1,500 - 3,500

    incidence of severe Alpha 1 in people of European descent 

  • 20 - 40 yrs. old

    typical occurrence of first signs and symptoms

  • 116 million

    estimated carriers of abnormal Alpha 1 genes worldwide

Gloved hand holding blood sample

How is Alpha 1 Diagnosed?

Alpha 1 can only be diagnosed by a blood test. If you have a family history of Alpha 1, COPD, emphysema, irreversible asthma, unexplained liver disease, or a skin disorder called necrotizing panniculitis, you should be tested. Alpha 1 is a progressive disease, which means if it is left undiagnosed and untreated, it can get worse and may do more harm to your lungs and body over time.

Icons - including lungs - symbolizing Alpha 1 facts

Alpha 1 Fast Facts

Check out this infographic for five key messages from the Alpha-1 Foundation, including important info about how easy it is to get tested.

See Infographic
Alpha 1 Patient Dee Kroeker

Tips for Those Newly Diagnosed with Alpha 1

Feelings of isolation can be common among people diagnosed with a rare disease. But Dee Kroecker, who is living with the rare genetic condition Alpha 1 Antitrypsin Deficiency, wants newly diagnosed patients to know that they are not alone.

Watch Dee's Tips
Older man and doctor

How Alpha 1 Antitrypsin Works - The Liver/Lung Connection

Alpha 1 Antitrypsin (AAT) is a protein made in your liver. Its main function is to protect your lungs against attack by an enzyme called neutrophil elastase which is usually involved in the inflammation caused by infection and inhaled irritants such as tobacco smoke. With respect to AATD, a low level of AAT in the blood occurs because the AAT is abnormal and cannot be released from the liver at the normal rate. This leads to an accumulation of abnormal AAT in the liver that can cause liver disease and a decrease of AAT in the blood that can lead to lung disease.

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