Alpha 1-antitrypsin deficiency epidemiology and demographics

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Mazia Fatima, MBBS [2]

Overview

Alpha 1-antitrypsin deficiency (A1AD) is more common in people of Northern European, Iberian, and Saudi Arabian descent. Most researchers believe it is markedly underrecognized. The incidence of alpha 1-antitrypsin deficiency (A1AD) is estimated to be 20 cases per 100,000 individuals worldwide. The prevalence of alpha 1-antitrypsin deficiency AATD is estimated to be 70,000-100,000 cases annually. Alpha1-antitrypsin deficiency (AATD) is one of most common lethal genetic diseases among adult white population. Alpha1-antitrypsin deficiency AATD has estimated 117 million carriers and 3.4 million affected individuals. AATD is more prevalent among the white population. Alpha 1-antitrypsin deficiency (A1AD) is more common in people of Northern European, Iberian, and Saudi Arabian descent. Most researchers believe it is markedly under-recognized. Men and women are affected equally by AATD.

Epidemiology and Demographics

Epidemiology and demographic details of alpha 1-antitrypsin deficiency are as follows:[1][2][3]

In a recent survey, the average time interval between the onset of pulmonary symptoms and time of diagnosis was 7.2 years. About 43% of patients see at least 3 physicians before the diagnosis is established, and 12% see between 6 and 10. Thus, most authors believe that alpha-1 AT deficiency is markedly under-recognized. Because there are genetic implications to the next generation, that diagnosis can assist in smoking prevention / cessation.

Incidence

The incidence of AATD is estimated to be 20 cases per 100,000 individuals worldwide.

Prevalence

The prevalence of AATD is estimated to be 10,000 per 100,000 patients annually. Alpha1-antitrypsin deficiency (AATD) is one of most common lethal genetic diseases among adult white population. AATD has estimated 117 million carriers and 3.4 million affected individuals.

Race

AATD is more prevalent among the white population. Alpha 1-antitrypsin deficiency (A1AD) is more common in people of Northern European, Iberian, and Saudi Arabian descent. Most researchers believe it is markedly under-recognized.

Sex

Men and women are affected equally by AATD.

Age

References

  1. Stoller JK, Aboussouan LS (2012). "A review of α1-antitrypsin deficiency". Am. J. Respir. Crit. Care Med. 185 (3): 246–59. doi:10.1164/rccm.201108-1428CI. PMID 21960536.
  2. Stoller JK, Brantly M (2013). "The challenge of detecting alpha-1 antitrypsin deficiency". COPD. 10 Suppl 1: 26–34. doi:10.3109/15412555.2013.763782. PMID 23527684.
  3. Greene DN, Elliott-Jelf MC, Straseski JA, Grenache DG (2013). "Facilitating the laboratory diagnosis of α1-antitrypsin deficiency". Am. J. Clin. Pathol. 139 (2): 184–91. doi:10.1309/AJCP6XBK8ULZXWFP. PMID 23355203.



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