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.
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1 in 1,500 - 3,500
incidence of severe Alpha 1 in people of European descent
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20 - 40 yrs. old
typical occurrence of first signs and symptoms
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19,000
Estimated number of carriers of an abnormal alpha-1 gene in Germany
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.
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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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.
Learn moreResources 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) |