Alpha-1 Patient Dee Meisner)

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 emphysema and 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

  • 19,000

    Estimated number of carriers of an abnormal alpha-1 gene in Germany

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.


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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 from inflammation caused by infection and inhaled irritants such as tobacco smoke. When you have a low level or insufficient amount of AAT protein in the blood, there is not enough traveling from the liver to your lungs, which can cause lung damage and liver disease.

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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.

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Resources for you

Living with AATD Information and service portal on alpha-1 antitrypsin deficiency (AATD).
 Website (in German)
COPD diagnosis COPD due to AATD? Get tested!
 Website (in German)
CSL Behring CARE Service for patients starting self-treatment at home with medication from CSL Behring.  Website (in German)
Alpha1-Deutschland.org
 Society for Alpha-1-Antitrypsin Deficiency Patients e.V.
 Website (in German)