Alpha-1 Awareness and Testing

There are an estimated 90,000 undiagnosed Americans living with Alpha-1 Antitrypsin Deficiency (Alpha-1). Alpha-1 is a genetic condition that is passed on by parents to their children through their genes and can cause serious liver disease in children and liver and/or lung disease in adults. Most people with Alpha-1 can extend and improve the quality of their lives through early diagnosis, behavioral and lifestyle changes and through access to treatment to slow the progression of lung disease.

Who Should be Tested for Alpha-1?

Individuals with any of the following histories or diagnoses should be tested for Alpha-1:

  • Blood relatives of individuals diagnosed with Alpha-1
  • Individuals with a family history of lung and/or liver disease
  • Chronic obstructive pulmonary disease (COPD), which includes emphysema and chronic bronchitis
  • Bronchiectasis (without evident origin)
  • Incompletely reversible asthma after aggressive treatment
  • Anyone with the skin disease panniculitis
  • Adults with C-ANCA-postive vasculitis (anti-proteinase 3-positive)
  • Newborns, children and adults with unexplained liver disease
  • Individuals with any of following symptoms should consider testing for Alpha-1:
  • Early onset of emphysema (age 45 years or less)
  • Shortness of breath with exercise or with routine activity
  • Wheezing with or without upper respiratory infection
  • Frequent chest colds or lung infections
  • Chronic cough and sputum (phlegm) production
  • Swelling of abdomen or legs
  • Yellowing of the eyes or skin
  • Unexplained liver problems or elevated liver enzymes
  • Decreased exercise tolerance
  • Adolescents with persistent airflow obstruction
  • Asymptomatic individuals with persistent obstruction on pulmonary function tests with identifiable risk factors such as: smoking or occupational exposure.

Testing Considerations

Due to the potential genetic issues surrounding Alpha-1 testing, it is important that individuals at risk for Alpha-1 have an understanding of the disorder and its manifestations and also learn how to make informed decisions BEFORE testing. Individuals considering testing for Alpha-1 should call the Association's genetic counselor at 1-800-785-3177.

Alpha-1 Genetic Counseling Program

The Alpha-1 Association's certified genetic counselor provides free and confidential guidance to individuals considering testing. This discussion includes the potential risks and benefits of testing, such as genetic discrimination. In addition, the genetic counselor can discuss the testing options available, such as the Alpha-1 Coded Testing Study which provides free and confidential at-home testing for Alpha-1, and helps individuals understand their test results.

Additional Alpha-1 Testing Resources

The Alpha-1 Association and Alpha-1 Foundation provide resources and information for individuals considering testing.