Alpha-1 Patient Dee Meisner)

Alpha 1 Antitrypsin Deficiency

Understanding 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 A1AT 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 emphysema and chronic obstructive pulmonary disease (COPD). An abnormal amount of A1AT 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

  • 19 million

    estimated carriers of abnormal Alpha 1 genes in the United States

Gloved hand holding blood sample

How is Alpha-1 Diagnosed?

Alpha-1 can only be diagnosed by a blood test. You and your doctor should talk about your risk for Alpha-1. 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 for Alpha-1. If you are at risk, you will be given a simple blood test to confirm your diagnosis. 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.

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Older man and doctor

How Alpha-1 Antitrypsin Works in the Body

Alpha-1 antitrypsin (A1AT) is a protein made in your liver. Its main function is to protect your lungs from inflammation caused by infection and inhaled irritants such as tobacco smoke. Alpha-1 occurs when there is a low level or insufficient amount of A1AT protein in the blood. When this happens, there is not enough A1AT traveling from the liver to your lungs. The low level of A1AT in the blood occurs because misfolded A1AT cannot be released from the liver at a normal rate. This leads to a buildup of A1AT in the liver that can cause liver disease. Alpha-1 is a progressive disease. Without treatment, Alpha-1 can get worse over time. It can also cause other serious lung diseases, such as COPD and emphysema.

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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

Resources for you Zemaira CareZ (pronounced “cares”) is a comprehensive support program for those diagnosed with Alpha 1 Antitrypsin Deficiency. Visit Website The Alpha-1 Foundation is committed to finding a cure for Alpha 1 Antitrypsin Deficiency and to improving the lives of people affected by Alpha 1 worldwide. Visit Website

Treatments Available

Availability of treatments may vary from country to country. Please be sure to visit your local site for further information.

Human alpha1-proteinase inhibitor View Website pdf
Mature man seated in a lab

Participate in Clinical Trials

Discover what is involved in participating in one of our clinical trials and how you can enroll.

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