Alpha 1-antitrypsin deficiency epidemiology and demographics: Difference between revisions
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==Overview== | ==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. | 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 Demographics == | ||
[[Epidemiology]] and [[Demographics|demographic]] details of alpha 1-antitrypsin deficiency are as follows:<ref name="pmid21960536">{{cite journal |vauthors=Stoller JK, Aboussouan LS |title=A review of α1-antitrypsin deficiency |journal=Am. J. Respir. Crit. Care Med. |volume=185 |issue=3 |pages=246–59 |year=2012 |pmid=21960536 |doi=10.1164/rccm.201108-1428CI |url=}}</ref><ref name="pmid23527684">{{cite journal |vauthors=Stoller JK, Brantly M |title=The challenge of detecting alpha-1 antitrypsin deficiency |journal=COPD |volume=10 Suppl 1 |issue= |pages=26–34 |year=2013 |pmid=23527684 |doi=10.3109/15412555.2013.763782 |url=}}</ref><ref name="pmid23355203">{{cite journal |vauthors=Greene DN, Elliott-Jelf MC, Straseski JA, Grenache DG |title=Facilitating the laboratory diagnosis of α1-antitrypsin deficiency |journal=Am. J. Clin. Pathol. |volume=139 |issue=2 |pages=184–91 |year=2013 |pmid=23355203 |doi=10.1309/AJCP6XBK8ULZXWFP |url=}}</ref> | [[Epidemiology]] and [[Demographics|demographic]] details of alpha 1-antitrypsin deficiency are as follows:<ref name="pmid21960536">{{cite journal |vauthors=Stoller JK, Aboussouan LS |title=A review of α1-antitrypsin deficiency |journal=Am. J. Respir. Crit. Care Med. |volume=185 |issue=3 |pages=246–59 |year=2012 |pmid=21960536 |doi=10.1164/rccm.201108-1428CI |url=}}</ref><ref name="pmid23527684">{{cite journal |vauthors=Stoller JK, Brantly M |title=The challenge of detecting alpha-1 antitrypsin deficiency |journal=COPD |volume=10 Suppl 1 |issue= |pages=26–34 |year=2013 |pmid=23527684 |doi=10.3109/15412555.2013.763782 |url=}}</ref><ref name="pmid23355203">{{cite journal |vauthors=Greene DN, Elliott-Jelf MC, Straseski JA, Grenache DG |title=Facilitating the laboratory diagnosis of α1-antitrypsin deficiency |journal=Am. J. Clin. Pathol. |volume=139 |issue=2 |pages=184–91 |year=2013 |pmid=23355203 |doi=10.1309/AJCP6XBK8ULZXWFP |url=}}</ref> | ||
In a recent survey, the average time interval between the onset of [[pulmonary]] symptoms and time of [[diagnosis]] was 7.2 years. | 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|smoking prevention]] / cessation. | ||
===Incidence === | ===Incidence === | ||
The incidence of AATD is estimated to be 20 cases per 100,000 individuals worldwide. | The incidence of AATD is estimated to be 20 cases per 100,000 individuals worldwide. | ||
=== Prevalence === | === Prevalence === | ||
The [[prevalence]] of 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. AATD has estimated 117 million carriers and 3.4 million affected individuals. | The [[prevalence]] of 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. AATD has estimated 117 million carriers and 3.4 million affected individuals. | ||
=== Race === | === 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. | 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. | ||
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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 70,000-100,000 cases 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
The enzyme deficiency is congenital and has a bimodal symptomatic distribution. It can present in neonates as a cause of neonatal jaundice and hepatitis.In infants it can cause cholestatic jaundice and in children, hepatic cirrhosis or liver failure. AATD is also the leading condition requiring liver transplantation in children.
AATD leads to chronic liver disease in the fifth decade of life. Emphysema in AATD, is seen in nonsmokers in the fifth decade of life and during the fourth decade of life in smokers.
References
- ↑ 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.
- ↑ 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.
- ↑ 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.