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Alpha-1 antitrypsin

Alpha-1 antitrypsin

Alpha-1 antitrypsin deficiency (alpha-1) is a hereditary condition that is passed on from parents to their children through genes. This condition may result in serious lung disease in adults and/or liver disease in infants, children and adults.

Alpha-1 occurs when there is a severe lack of a protein in the blood called alpha-1 antitrypsin (AAT) that is mainly produced by the liver. 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 it cannot be released from the liver at the normal rate. This leads to a buildup of abnormal AAT in the liver that can cause liver disease.

Symptoms of alpha-1

What are the most common symptoms of alpha-1?

Symptoms related to the lungs:

  • Shortness of breath.
  • Wheezing.
  • Chronic cough.
  • Sputum (phlegm) production.
  • Recurring chest colds.

Symptoms related to the liver:

  • Eyes and skin turning yellow (jaundice). 
  • Swelling of the abdomen (ascites).
  • Vomiting blood or passing blood in the stool.

Important facts about alpha-1

  • Is a genetic disorder that leads to low or undetectable levels of AAT and May cause lung disease in adults.
  • May cause liver damage that gets worse over time in adults, children and infants.
  • Often goes undetected for years.
  • Can be treated, but cannot be cured without a liver transplant.
  • Is easy to find through a blood test.

Testing criteria for alpha-1

  • Everyone with emphysema, chronic obstructive pulmonary disease (COPD) or chronic bronchitis should be tested for alpha-1.
  • People with bronchiectasis, newborns, children and adults with unexplained liver disease n People with a family history of liver disease.
  • Blood relatives of a person diagnosed with alpha-1.
  • Anyone with panniculitis, a skin disease.

Testing for alpha-1

Testing for alpha-1 is fairly simple, quick and highly accurate. It is done through a blood test or a mouth swab test. People at risk for alpha-1 should be tested, because there are treatments and preventive measures that may slow the progression of the lung disease and help you take better control of your health.

To learn more or schedule an appointment, call:

UT Health East Texas Pulmonary Institute at North Campus Tyler at 903-877-7916

Providers For Alpha-1 antitrypsin

Leslie A. Couch, MD
Pulmonology (Lung Disease), Cystic Fibrosis, Infectious Lung Diseases