Alpha 1-antitrypsin deficiency epidemiology and demographics: Difference between revisions

Jump to navigation Jump to search
No edit summary
 
(14 intermediate revisions by 2 users not shown)
Line 1: Line 1:
__NOTOC__
__NOTOC__
{{Alpha 1-antitrypsin deficiency}}
{{Alpha 1-antitrypsin deficiency}}
{{CMG}}; {{AE}} {{CZ}}
{{CMG}}; {{AE}} {{Mazia}}


==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.
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 ==
People of northern European, Iberian and Saudi Arabian ancestry are at the highest risk for A1AD. Four percent carry the PiZ [[allele]]; between 1 in 625 and 1 in 2000 are [[homozygote|homozygous]].
[[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>


<figure-inline>[[Image:PiZZ Europe.png|600x600px]]</figure-inline>
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.
 
It is estimated that between 80,000 – 1000,000 (~ 1 in 1,650 to 1 in 3,000) Americans have severe alpha-1 AT deficiency (PI ZZ phenotype). This is approximately the same prevalence as [[cystic fibrosis]].  Studies have also estimated that ~ 2-3% of patients with severe [[COPD]] ([[chronic obstructive pulmonary disease]]) have severe alpha-1 AT deficiency.  Given this relatively high prevalence, it is interesting to find that most clinicians perceive alpha-1 AT deficiency to be rare.  In fact, only ~ 4% of patients with the PI ZZ phenotype were identified by the medical community in one study. The remaining 96% of PI ZZ patients must therefore be asymptomatic, or symptomatic but have escaped detection.  In a recent survey, the average time interval between the onset of pulmonary symptoms and time of diagnosis was 7.2 years. Additionally, 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 underrecognized. Because there are genetic implications to the next generation, that diagnosis can assist in smoking prevention / cessation, and that treatment is now available, enhanced detection is essential.
 
=== Frequency\ ===
In United States, AATD is one of the most common lethal genetic diseases in adult white persons, with an incidence of 1/5000 individuals and prevalence of 70,000 to 100
 
''United States''
 
Alpha1-antitrypsin deficiency (AATD) is 1 of the 3 most common lethal genetic diseases among adult white persons, affecting 1 per 3000-5000 individuals. Severe AATD affects an estimated 70,000-100,000 individuals, and approximately 25 million people carry of at least 1 deficient gene. However, less than 10% of severely deficient individuals are currently identified.<sup> [[null 1], [null 2], [null 6], [null 7]]</sup>
 
''International''
 
AATD has been identified in all populations, but it is most common in individuals of Northern European (1 in 1600) and Iberian descent. Similar rates are found among white persons worldwide, with an estimated 117 million carriers and 3.4 million affected individuals.


===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 ===
=== Race ===
White persons constitute an estimated 117 million carriers and 3.4 million affected individuals. Racial groups other than whites are affected less frequently.
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 ===
=== Sex ===
Women and men are affected in equal numbers.
Men and women are affected equally by AATD.
 
=== Age ===
=== Age ===
The enzyme deficiency is congenital and has a bimodal distribution with respect to symptoms. It can be seen in neonates as a cause of neonatal jaundice and hepatitis. It can present in infants as cholestatic jaundice and in children as hepatic cirrhosis or liver failure. AATD is also the leading underlying condition requiring liver transplantation in children.
*Alpha 1-antitrypsin deficiency is usually first diagnosed among nonsmokers in the fifth decade of life and during the fourth decade of life in smokers.
 
*Alpha 1-antitrypsin deficiency 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]].
In adults, AATD leads to chronic liver disease in the fifth decade of life. As a cause of emphysema, it is seen in nonsmokers in the fifth decade of life and during the fourth decade of life in smokers.
*AATD is also the leading condition requiring [[liver transplantation]] in [[children]].


==References==
==References==

Latest revision as of 16:13, 23 January 2018

Alpha 1-antitrypsin deficiency Microchapters

Home

Patient Information

Overview

Historical Perspective

Classification

Pathophysiology

Causes

Differentiating Alpha 1-antitrypsin deficiency from other Diseases

Epidemiology and Demographics

Risk Factors

Screening

Natural History, Complications, and Prognosis

Diagnosis

History and Symptoms

Physical Examination

Laboratory Findings

Electrocardiogram

X Ray

CT

MRI

Ultrasound

Other Imaging Findings

Other Diagnostic Studies

Treatment

Medical Therapy

Surgery

Primary Prevention

Secondary Prevention

Cost-Effectiveness of Therapy

Future or Investigational Therapies

Case Studies

Case #1

Alpha 1-antitrypsin deficiency epidemiology and demographics On the Web

Most recent articles

Most cited articles

Review articles

CME Programs

Powerpoint slides

Images

American Roentgen Ray Society Images of Alpha 1-antitrypsin deficiency epidemiology and demographics

All Images
X-rays
Echo & Ultrasound
CT Images
MRI

Ongoing Trials at Clinical Trials.gov

US National Guidelines Clearinghouse

NICE Guidance

FDA on Alpha 1-antitrypsin deficiency epidemiology and demographics

CDC on Alpha 1-antitrypsin deficiency epidemiology and demographics

Alpha 1-antitrypsin deficiency epidemiology and demographics in the news

Blogs on Alpha 1-antitrypsin deficiency epidemiology and demographics

Directions to Hospitals Treating Alpha 1-antitrypsin deficiency

Risk calculators and risk factors for Alpha 1-antitrypsin deficiency epidemiology and demographics

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.


Template:WikiDoc Sources