Home | Find A Doctor | Contact Us





Patient Education and Support

Clinical Trials

The James P. Mara Center for Lung Disease

Critical Care Medicine


Fellowship Program

Contact Us


What is Alpha-1 Antitrypsin Deficiency?
Alpha-1 Antitrypsin Deficiency (Alpha-1, AAT) is a genetic condition that is passed from parents to their children. This condition may result in serious lung and/or liver disease at various ages in life. People with severe Alpha-1 have received two defective alpha-1 antitrypsin genes. One defective gene came from their mother and one from their father. Alpha-1 has been identified in virtually all populations and ethnic groups. It is estimated that as many as 1 in every 2,500 Americans has Alpha-1, and there may be up to 100,000 people with Alpha-1 in the United States.

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:

  • Shortness of breath
  • Wheezing
  • Chronic cough and sputum (phlegm) production (chronic bronchitis)
  • Recurring chest colds
  • Eyes and skin turning yellow (jaundice)
  • Swelling of the abdomen (ascites) or legs
  • Vomiting blood (from enlarged veins in the esophagus or stomach)
  • Decreased exercise tolerance
  • Non-responsive asthma or year-round allergies
  • Unexplained liver problems or elevated liver enzymes
  • Bronchiectasis

Alpha-1 can lead to lung destruction and is often misdiagnosed as asthma
or smoking-related Chronic Obstructive Pulmonary Disease (COPD).

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.

James P. Mara Center For Lung Disease

  • Recognized as a "Center of Excellence" and a Clinical Resource Center (CRC) for Alpha-1 Antitrypsin Deficiency by the Alpha-1 Foundation. For more information call (212) 523-5471.
  • Alpha-1 Foundation

    • Supports testing for individuals at risk for Alpha-1 Antitrypsin Deficiency.
    • Supports a wide range of research programs at various academic institutions throughout the United States. Obtain more information on the Alpha-1 Foundation's research programs at: http://www.alphaone.org/researchers/ or call (877) 228-7321, ext. 252.

    Alpha-1 Association
    Founded by “Alphas” in 1991 to help identify those affected by Alpha-1, this nonprofit organization provides support, education, and advocacy to the Alpha-1 patient community. Visit http://www.alpha1.org or access specific services below:

    Patient Information Hotline: 800-245-6809

    Genetic Counseling Call Center: 800-785-3177

    Alpha-1 Peer Guide Program: 877-346-3212


    Privacy Policy | Site Map
    Copyright ©  Icahn School of Medicine at Mount Sinai | Mount Sinai Health System