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
To learn more about alpha-1 testing, go to Test to rule out alpha-1
References
- 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.
- 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.
- Orphanet Report Series. Prevalence of Rare Diseases: Bibliographic data. March 2016, Number 1.
- 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.
- World Health Organization. alpha-1 antitrypsin deficiency: memorandum from a WHO meeting. Bull World Health Organ. 1997;75(5):397-415.
- Alpha-1 Foundation. What is Alpha-1? http://alpha-1foundation.org/what-is-alpha-1/. Accessed July 14, 2016.
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