Diseases & Conditions


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Alpha1-antitrypsin deficiency

Alpha-1 antitrypsin deficiency, or alpha-1, is a genetic condition that runs in certain families and that most often affects the lungs and liver.

In the lungs, alpha-1 can lead to the development of emphysema. Emphysema involves destruction of the lung’s air sacs (alveoli), where oxygen from the air is exchanged for carbon dioxide in the blood. Alpha 1-antitrypsin is a protein produced by the liver and that circulates in the blood. Among other functions, the protein protects the lungs so they can function properly. In people with the disorder, the liver produces too little or no alpha 1-antitrypsin.

Alpha-1 antitrypsin protects lung tissue from damage caused by neutrophil elastase, a substance released by white blood cells during infection or inflammation. Without enough alpha-1 antitrypsin, neutrophil elastase is free to destroy air sac tissue. The speed at which this occurs varies. Smoking, however, worsens the damage, because cigarette smoke weakens the ability of alpha-1 antitrypsin to protect lung tissue.

Approximately 70,000 to 100,000 Americans have the disorder, but most have not been diagnosed. Common symptoms of alpha-1 include:

  • Difficulty breathing or exhaling
  • Difficulty "catching" a breath
  • Cough and phlegm production
  • Wheezing.

Management of alpha-1 at Cleveland Clinic

Assessment and Diagnosis

Early diagnosis of alpha-1 is important because the combination of quitting smoking and receiving early treatment can slow disease progression. Patient assessment involves a thorough physical exam, history, various types of lung function testing and specialized laboratory testing of blood.


Treatment for alpha-1 includes behavioral and lifestyle modification (e.g., smoking cessation, avoiding environmental pollution, pulmonary rehabilitation, adopting a nutrition program, reducing stress), drug therapy (e.g., vaccination for influenza and pneumonia; aggressive treatment of lung infections; use of bronchodilators, corticosteroids and supplemental oxygen), surgery (e.g., lung volume reduction, lung transplantation) and augmentation therapy (increases circulating levels of the alpha 1-antitrypsin protein).

The objective of augmentation therapy is to increase the concentration of alpha 1-antitrypsin inside the lungs in order to slow tissue destruction. Such therapy is only appropriate, however, for certain types of alpha-1.

Cleveland Clinic pulmonologists who treat alpha-1 antitrypsin deficiency:

Make an Appointment

If you want to learn more about Cleveland Clinic alpha-1 treatment options or make an appointment with a Cleveland Clinic alpha-1 specialist, call The Cleveland Clinic Department of Pulmonary, Allergy and Critical Care Medicine at 216.444.6503 or toll free at 800.223.2273, ext. 4-6503, Monday through Friday, 8:30 a.m. to 4:30 p.m. (Eastern Standard Time).

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This information is provided by Cleveland Clinic and is not intended to replace the medical advice of your doctor or health care provider. Please consult your health care provider for advice about a specific medical condition.

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