Alpha-1 is rarely diagnosed1

According to genetic epidemiology studies, alpha-1-antitrypsin (A1AT) deficiency (also known as alpha-1) is one of the world's most prevalent, serious hereditary disorders.2,3

  • An estimated 116 million individuals worldwide are thought to have at least 1 deficient allele (S or Z)4
  • There are approximately 3.4 million individuals in the world with severe deficiency allele combinations4
    • Alpha-1 may be a contributing cause for up to 3% of all COPD cases.2,5

A greater recognition of alpha-1 is needed

Alpha-1 is often an overlooked diagnosis or it is diagnosed only after a considerable delay.2

  • More than 90% of those with alpha-1 are thought to be undiagnosed
  • The average number of physicians seen by patients before being correctly diagnosed is 2.7
  • The average age at diagnosis is 46 and the average interval between onset of symptoms and diagnosis is 8.3 years2
    • Because of this, it is difficult to estimate prevalence figures. In this respect, registry data provide valuable information.

It is a genetic disorder that can only be confirmed through laboratory testing6

Learn more

To learn more about alpha-1 testing, go to Test to rule out alpha-1

Learn more


  1. de Serres FJ. Alpha-1 antitrypsin deficiency is not a rare disease but a disease that is rarely diagnosed. Environ Health Perspect. 2003;111(16):1851-1854.
  2. Campos MA, Wanner A, Zhang G, et al. Trends in the diagnosis of symptomatic patients with alpha-1 antitrypin deficiency between 1968 and 2003. Chest. 2005;128(3):1179-1186.
  3. Orphanet Report Series. Prevalence of Rare Diseases: Bibliographic data. March 2016, Number 1.
  4. de Serres FJ. Worldwide racial and ethnic distribution of alpha-1 antitrypsin deficiency: summary of analysis of published genetic epidemiologic surveys. Chest. 2002;122:1818-1829.
  5. World Health Organization. alpha-1 antitrypsin deficiency: memorandum from a WHO meeting. Bull World Health Organ. 1997;75(5):397-415.
  6. Alpha-1 Foundation. What is Alpha-1? Accessed July 14, 2016.

This site is intended only for healthcare professionals. The information herein provided is educational and should not be treated or viewed as promotional material