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Patient Education and Support
The James P. Mara Center for Lung Disease
Critical Care Medicine
What is Alpha-1 Antitrypsin Deficiency?
The main function of AAT is to protect the lungs from inflammation caused by infection and inhaled irritants, such as tobacco smoke. The 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 a build up 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.
Individuals with Alpha-1 may remain healthy throughout their lives. Early diagnosis and avoidance of risk factors, such as cigarette smoking, can help prevent emphysema.
Common signs and symptoms:
Alpha-1 is the most common genetic risk factor for emphysema and COPD.
As many as 3% of all people diagnosed with COPD may have undetected Alpha-1.
The World Health Organization (WHO), American Thoracic Society (ATS), and the European Respiratory Society (ERS) recommend that all individuals with COPD be tested for Alpha-1.
Patient Information Hotline: 800-245-6809
Genetic Counseling Call Center: 800-785-3177
Alpha-1 Peer Guide Program: 877-346-3212
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