Alpha-1-Antitrypsin Deficiency

Common Name(s)

Alpha-1-Antitrypsin Deficiency, Familial emphysema

Alpha 1-antitrypsin deficiency is an inherited disorder that can cause lung disease in adults and liver disease in adults and children.  Alpha-1 antitrypsin (AAT) is a protein that protects the lungs. The liver usually makes the protein, and releases it into the bloodstream. Because of a mutation in the SERPINA1 gene, some people have little or no AAT. Not having enough AAT may lead to emphysema or liver problems. Smoking increases the risk. A deficiency of AAT can be treated but not cured. One treatment involves adding to or replacing the missing protein. More severe cases may require a lung transplant. This condition is caused by mutations in the SERPINA1 gene and inherited in an autosomal co-dominant fashion.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Alpha-1-Antitrypsin Deficiency" for support, advocacy or research.

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Alpha-1 Antitrypsin Deficiency Canada Inc.

Alpha-1 Canada’s mission is to provide information, education and support to Canadians affected by alpha-1 antitrypsin deficiency; inform and educate the medical community about alpha-1 antitrypsin deficiency; and generate broad awareness about this genetic liver, lung and skin disease.

Last Updated: 11 Mar 2013

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Alpha-1 Association

The Alpha-1 Association is dedicated to identifying individuals affected by Alpha-1 and improving the quality of their lives through support, education, advocacy and to encourage participation in research.

Last Updated: 27 Dec 2012

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Alpha-1 Awareness UK

Alpha-1 Awareness UK is a charity formed to provide information and support to sufferers of alpha-1 antitrypsin deficiency. We maintain close links with experts and organisations associated with the condition, including European Alpha groups, pharmaceuticals and clinicians. Our primary objective is to improve the understanding of A1AT in both patients and medical professionals, as well as to provide support for Alphas and their carers.

Last Updated: 29 Mar 2013

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Alpha-1 Foundation

The Alpha-1 Foundation is dedicated to providing the leadership and resources that will result in increased research, improved health, worldwide detection, and a cure for Alpha-1 Antitrypsin Deficiency.

Last Updated: 26 Aug 2015

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Alpha-1 UK Support Group

To provide support and education for patients, families, carers and friends who are affected directly or indirectly by Alpha-1 Antitrypsin Deficiency. To grow a social network for patients, by providing discussion groups focusing on how better to cope with their condition, aiming towards improving quality of life. To advance education and understanding of the condition, in particular among medical professionals, including information relating to genetic implications, treatment, and lifestyle choices. To campaign for better access to treatment for Alpha-1 patients.

Last Updated: 29 Apr 2014

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AlphaNet, Inc.

AlphaNet has a mission. The heart of this mission is simple — to improve the lives of individuals affected by Alpha-1 Antitrypsin Deficiency. As a not-for-profit organization that is governed by, employs and serves Alphas, AlphaNet is uniquely able to develop and offer programs and services based on a very personal understanding of how Alpha-1 affects the lives of Alphas. In keeping with this mission, AlphaNet provides a wide range of specialized programs and services designed to meet the specific needs of the Alphas it serves.

Last Updated: 8 Jan 2013

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Caring Voice Coalition,Inc,

Caring Voice Coalition empowers patients who live with a life threatening chronic disease through comprehensive outreach programs and services aimed at financial, emotional and educational support. With a steadfast dedication to the organization’s set of core values, our knowledgeable, caring staff maintains our solid reputation as a dependable, responsive organization with a unique, holistic approach to improving the lives of our patients.

Last Updated: 29 Apr 2014

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General Support Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Alpha-1-Antitrypsin Deficiency" for support, advocacy or research.

Logo
Alpha-1 Antitrypsin Deficiency Canada Inc.

Alpha-1 Canada’s mission is to provide information, education and support to Canadians affected by alpha-1 antitrypsin deficiency; inform and educate the medical community about alpha-1 antitrypsin deficiency; and generate broad awareness about this genetic liver, lung and skin disease.

http://www.alpha1canada.ca

Last Updated: 11 Mar 2013

View Details
Alpha-1 Association

The Alpha-1 Association is dedicated to identifying individuals affected by Alpha-1 and improving the quality of their lives through support, education, advocacy and to encourage participation in research.

http://www.alpha1.org

Last Updated: 27 Dec 2012

View Details
Logo
Alpha-1 Awareness UK

Alpha-1 Awareness UK is a charity formed to provide information and support to sufferers of alpha-1 antitrypsin deficiency. We maintain close links with experts and organisations associated with the condition, including European Alpha groups, pharmaceuticals and clinicians. Our primary objective is to improve the understanding of A1AT in both patients and medical professionals, as well as to provide support for Alphas and their carers.

http://www.alpha1awareness.org.uk

Last Updated: 29 Mar 2013

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Alpha-1 Foundation

The Alpha-1 Foundation is dedicated to providing the leadership and resources that will result in increased research, improved health, worldwide detection, and a cure for Alpha-1 Antitrypsin Deficiency.

http://alpha1.org/

Last Updated: 26 Aug 2015

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Alpha-1 UK Support Group

To provide support and education for patients, families, carers and friends who are affected directly or indirectly by Alpha-1 Antitrypsin Deficiency. To grow a social network for patients, by providing discussion groups focusing on how better to cope with their condition, aiming towards improving quality of life. To advance education and understanding of the condition, in particular among medical professionals, including information relating to genetic implications, treatment, and lifestyle choices. To campaign for better access to treatment for Alpha-1 patients.

http://www.alpha1.org.uk

Last Updated: 29 Apr 2014

View Details
AlphaNet, Inc.

AlphaNet has a mission. The heart of this mission is simple — to improve the lives of individuals affected by Alpha-1 Antitrypsin Deficiency. As a not-for-profit organization that is governed by, employs and serves Alphas, AlphaNet is uniquely able to develop and offer programs and services based on a very personal understanding of how Alpha-1 affects the lives of Alphas. In keeping with this mission, AlphaNet provides a wide range of specialized programs and services designed to meet the specific needs of the Alphas it serves.

Last Updated: 8 Jan 2013

View Details
Caring Voice Coalition,Inc,

Caring Voice Coalition empowers patients who live with a life threatening chronic disease through comprehensive outreach programs and services aimed at financial, emotional and educational support. With a steadfast dedication to the organization’s set of core values, our knowledgeable, caring staff maintains our solid reputation as a dependable, responsive organization with a unique, holistic approach to improving the lives of our patients.

http://www.caringvoice.org

Last Updated: 29 Apr 2014

View Details

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Alpha-1-Antitrypsin Deficiency" returned 220 free, full-text research articles on human participants. First 3 results:

Quantitation of circulating wild-type alpha-1-antitrypsin in heterozygous carriers of the S and Z deficiency alleles.
 

Author(s): L J Donato, R M Karras, J A Katzmann, D L Murray, M R Snyder

Journal:

 

Alpha-1-antitrypsin (A1AT) deficiency disease results from mutations in the A1AT gene. Controversy exists in regards to treatment of heterozygous carriers of the S and Z deficiency alleles. Quantitation of allelic expression has not been possible with standard laboratory methods. ...

Last Updated: 5 Aug 2015

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Alternative transcripts of the SERPINA1 gene in alpha-1 antitrypsin deficiency.
 

Author(s): Nerea Matamala, Maria Teresa Martínez, Beatriz Lara, Laura Pérez, Irene Vázquez, Azucena Jimenez, Miguel Barquín, Ilaria Ferrarotti, Ignacio Blanco, Sabina Janciauskiene, Beatriz Martinez-Delgado

Journal:

 

SERPINA1 is the gene for alpha-1 antitrypsin (AAT), an acute phase protein with anti-protease and immunoregulatory activities. Mutations in SERPINA1 gene cause AAT deficiency and predispose individuals to early-onset emphysema and liver diseases. Expression of the SERPINA1 gene is ...

Last Updated: 4 Jul 2015

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Low incidence of alpha-1-antitrypsin deficiency in Iranian patients with neonatal cholestasis.
 

Author(s): Farzaneh Motamed, Sanaz Mehrabani, Maryam Monajemzadeh, Mohammad Taghi Haghi Ashtiani, Sima Hosseinverdi, Masoud Houshmand, Omid Aryani, Mehri Najafi, Fatemeh Farahmand, Mohammad Ali Kiani, Ahmad Khodadad, Gholam Hossein Fallahi, Gholamreza Khatami, Nima Rezaei

Journal: Turk J Gastroenterol. 2015 May;26(3):251-3.

 

There is little data concerning the incidence of alpha-1-antitrypsin"(AAT) deficiency, the most common genetic cause of liver disease, among children with neonatal cholestasis in Iran. Thus, this study was performed to analyze AAT deficiency in this group of patients.

Last Updated: 26 May 2015

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Alpha-1-Antitrypsin Deficiency" returned 35 free, full-text review articles on human participants. First 3 results:

Suspecting and Testing for Alpha-1 Antitrypsin Deficiency-An Allergist's and/or Immunologist's Perspective.
 

Author(s): Timothy J Craig

Journal: J Allergy Clin Immunol Pract. ;3(4):506-11.

 

Alpha-1 antitrypsin deficiency (AATD) is a hereditary, monogenic disorder with no unique clinical features. AATD can be difficult to diagnose as patients commonly present with respiratory symptoms often mistaken for other respiratory syndromes such as asthma or smoking-related chronic ...

Last Updated: 13 Jul 2015

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[Alpha-1-antitrypsin deficiency].
 

Author(s): Marion Bouchecareilh

Journal: Med Sci (Paris). 2014 Oct;30(10):889-95.

 

Alpha-1-antitrypsin (α1AT) deficiency is a genetic disorder that manifests as pulmonary emphysema and liver cirrhosis. α1AT deficiency is the most common genetic cause of liver disease in children and also an underappreciated cause of liver disease in adults. The prevalence in the ...

Last Updated: 14 Oct 2014

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Capitalizing on the autophagic response for treatment of liver disease caused by alpha-1-antitrypsin deficiency and other genetic diseases.
 

Author(s): Andrew S Chu, David H Perlmutter, Yan Wang

Journal: Biomed Res Int. 2014 ;2014():459823.

 

Alpha-1-antitrypsin deficiency (ATD) is one of the most common genetic causes of liver disease and is a prototype of liver diseases caused by the pathologic accumulation of aggregated mutant alpha-1-antitrypsin Z (ATZ) within liver cells. In the case of ATD-associated liver disease, ...

Last Updated: 15 Jul 2014

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in Genetics Home Reference.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Liver Fibrosis in Alpha-1 Antitrypsin Deficiency (AATD)
 

Status: Recruiting

Condition Summary: Liver Fibrosis; Alpha-1 Antitrypsin Deficiency; AAT Deficiency; AATD

 

Last Updated: 3 May 2016

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Alpha-1 Antitrypsin Deficiency Adult Liver Study
 

Status: Recruiting

Condition Summary: Alpha-1 Antitrypsin Deficiency

 

Last Updated: 19 Apr 2016

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Microbioma in Sputa From COPD With Alpha-1 Antitrypsin Deficiency
 

Status: Not yet recruiting

Condition Summary: Alpha-1 Antitrypsin Deficiency

 

Last Updated: 9 Sep 2015

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