Frequently Asked Questions: Alpha1-Antitrypsin (AAT) Deficiency

Read these FAQs to better understand AAT Deficiency

What is genetic COPD?

Genetic COPD, like alpha-1, is another name for alpha1-antitrypsin (AAT) deficiency, a hereditary condition caused by variants of certain alleles in the SERPINA1 gene that predispose individuals to early-onset chronic obstructive pulmonary disease (COPD) and liver disease.1-3

What is alpha1-antitrypsin deficiency?

Alpha1-antitrypsin (AAT) deficiency, or alpha-1, is the most common genetic form of chronic obstructive pulmonary disease (COPD) and one of the most prevalent, potentially fatal, hereditary conditions in the world.1,2 AAT deficiency increases the risk of COPD and liver disease (cirrhosis).2,3

What is alpha1 antitrypsin?

Alpha1 antitrypsin (AAT) is a serine protease inhibitor primarily produced by the liver, circulating to the alveoli where it protects the lungs from proteolytic attack and inflammation, particularly by neutrophil elastase.1

What causes alpha1-antitrypsin deficiency?

AAT deficiency is caused by the presence of 2 deficient alleles (genetic variants) in the SERPINA1 gene which code for the alpha-1 antitrypsin protein.5 AAT deficiency occurs when the blood is deficient of this protein.5

How is alpha1-antitrypsin deficiency inherited?

Alpha1-antitrypsin (AAT) deficiency has a codominant autosomal inheritance pattern in which both alleles are expressed in the offspring.3,6 As a result, the American Thoracic Society (ATS) recommends genetic screening tests for immediate family members of individuals diagnosed with AAT deficiency.7

Is alpha1-antitrypsin deficiency rare?

AAT deficiency is a relatively common, but widely underrecognized and underdiagnosed hereditary condition.3 Experts in the field have said that AAT deficiency is not rare; rather, it is rarely diagnosed.2

  • ~16 million Americans have COPD12
    • ~15% of patients have at least 1 abnormal allele and could be at increased risk of COPD and liver disease3,11
    • ~1 in 100 have a severe alpha-1 deficiency5
    • ~90% of people with AAT deficiency remain undiagnosed5

What is AlphaID?

AlphaID™ combines simple DNA sample collection with a comprehensive genetic screening test for alpha1-antitrypsin (AAT) deficiency that detects the 14 most prevalent variants associated with the condition.10

What is chronic obstructive pulmonary disease (COPD)?

Chronic obstructive pulmonary disease (COPD) is a highly prevalent, debilitating lung disease characterized by emphysema, persistent airflow obstruction, and/or chronic bronchitis. Approximately 16 million individuals are diagnosed with COPD and it is the 4th leading cause of mortality in the United States.8,12

What causes COPD in people who have never smoked?

Alpha1-antitrypsin (AAT) deficiency can cause chronic obstructive pulmonary disease (COPD) in individuals who have never smoked.2

Are alpha1-antitrypsin deficiency screening tests costly?

No. AlphaID™ is completely free, from ordering to results, and provided compliments of Grifols. AlphaID™ may not be billed to providers, patients, or insurers.

How long does an alpha-1 screening test take?

Genetic screening tests for alpha1-antitrypsin (AAT) deficiency typically involve a fingerstick blood draw or a cheek swab DNA collection method. For a cheek swab such as AlphaID™, it takes seconds to collect an appropriate sample for accurate genotyping results. Processing and results take approximately 5 to 7 business days. 

What is the SERPINA1 gene?

SERPINA1 is a gene that codes for the alpha1-antitrypsin protein and its production in the liver.4 The most common variant linked to alpha-1 antitrypsin deficiency is PI*Z.3,6

References:

  1. Campos MA, Wanner A, Zhang G, Sandhaus RA. Trends in the diagnosis of symptomatic patients with α1-antitrypsin deficiency between 1968 and 2003. CHEST. 2005;128(3):1179-1186.
  2. Stoller JK. Myths and misconceptions about 1-antitrypsin deficiency. Arch Intern Med. 2009;169(6):546-550.
  3. Stoller JK, Aboussouan LS. A review of alpha-1 antitrypsin deficiency. Am J Respir Crit Care Med. 2012;185(3):246-259.
  4. Silverman EK, Sandhauss. Clinical Practice. Alpha-1 antitrypsin deficiency. N Engl J Med. 2009;360(26):2749-2757.
  5. Brantly M, Campos M, Davis AM, et al. Detection of alpha-1 antitrypsin deficiency: The past, present and future. Orphanet J Rare Dis. 2020;15(1):96. doi:10.1186/s13023-020-01352-5
  6. Alpha-1 antitrypsin deficiency - symptoms, causes, treatment: NORD. National Organization for Rare Disorders. March 21, 2024. Accessed June 3, 2024. https://rarediseases.org/rare-diseases/alpha-1-antitrypsin-deficiency/.
  7. American Thoracic Society/European Respiratory Society. American Thoracic Society/European Respiratory Society statement: standards for the diagnosis and management of individuals with alpha-1 antitrypsin deficiency. Am J Respir Crit Care Med. 2003;168(7)818-900.
  8. COPD National Action Plan. NIH: National Heart, Lung, and Blood Institute. February 9, 2021. Accessed June 3, 2024. https://www.nhlbi.nih.gov/health-topics/education-and-awareness/COPD-national-action-plan.
  9. A1AT Genotyping Test Package Insert. Bizkaia, Spain: Progenika Biopharma.

  10. AlphaID Screening test. AlphaID. Accessed June 3, 2024. https://www.alphaid.com/en/hcp/how-to-screen-for-alpha-1.

  11. Data on File. Alpha-1 Genetics Laboratory. Grifols.
  12. About COPD. Centers for Disease Control and Prevention. May 15, 2024. Accessed June 3, 2024. https://www.cdc.gov/copd/about/index.html.