Alpha 1-Antitrypsin Deficiency

Common Name(s)

Alpha 1-Antitrypsin Deficiency, Alpha-1-Antitrypsin Deficiency

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 Advocacy Alliance

The Alpha-1 Advocacy Alliance was formed to build an educational assistance program to meet these quickly expanding needs. We have a passion to serve the under-served populace, educating and empowering them to move in a direction that improves their lives. In addition, these same individuals have much to offer each other and through extended volunteers and compassion, we encourage growth through exchange.

Last Updated: 24 Nov 2009

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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: 5 Mar 2013

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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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How do you compare to others with this condition?

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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 Advocacy Alliance

The Alpha-1 Advocacy Alliance was formed to build an educational assistance program to meet these quickly expanding needs. We have a passion to serve the under-served populace, educating and empowering them to move in a direction that improves their lives. In addition, these same individuals have much to offer each other and through extended volunteers and compassion, we encourage growth through exchange.

http://www.alpha1advocacy.org

Last Updated: 24 Nov 2009

View Details
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://alpha-1foundation.org/

Last Updated: 5 Mar 2013

View Details
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 192 free, full-text research articles on human participants. First 3 results:

Is an integrative laboratory algorithm more effective in detecting alpha-1-antitrypsin deficiency in patients with premature chronic obstructive pulmonary disease than AAT concentration based screening approach?
 

Author(s): Andjelo Beletic, Aleksandra Dudvarski-Ilic, Branislava Milenkovic, Ljudmila Nagorni-Obradovic, Mila Ljujic, Valentina Djordjevic, Dusko Mirkovic, Dragica Radojkovic, Nada Majkic-Singh

Journal: Biochem Med (Zagreb). 2014 ;24(2):293-8.

 

Alpha-1-antitrypsin deficiency (AATD), genetic risk factor for premature chronic obstructive pulmonary disease (COPD), often remains undetected. The aim of our study was to analyse the effectiveness of an integrative laboratory algorithm for AATD detection in patients diagnosed with ...

Last Updated: 27 Jun 2014

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Alpha-1-antitrypsin deficiency associated with the Mattawa variant.
 

Author(s): Beatriz Lara, Beatriz Martínez-Delgado, Maria Luisa Torres, Sandra Marín-Arguedas, Ana Bustamante, Marc Miravitlles

Journal: Arch. Bronconeumol.. 2013 Dec;49(12):548-50.

 

The most common deficiency alleles for alpha-1-antitrypsin deficiency (AATD) are Pi*S and Pi*S, but there are also other deficiency variants. This case report describes the first two cases of AATD detected in Spain resulting from the combination of a null Mattawa allele with a normal ...

Last Updated: 9 Dec 2013

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Disorders of protein misfolding: alpha-1-antitrypsin deficiency as prototype.
 

Author(s): Gary A Silverman, Stephen C Pak, David H Perlmutter

Journal: J. Pediatr.. 2013 Aug;163(2):320-6.

 

Last Updated: 26 Jul 2013

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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 33 free, full-text review articles on human participants. First 3 results:

Alpha-1-antitrypsin deficiency-associated panniculitis: a case report.
 

Author(s): André Laureano, Rodrigo Carvalho, Alexandra Chaveiro, Jorge Cardoso

Journal:

 

Panniculitis is a recognized, but rare complication of α1-antitrypsin (A1AT) deficiency. Less than 60 cases have been reported, mostly in the homozygous PiZZ variant. We report the case of a 55-year old woman with A1AT panniculitis associated with the heterozygous phenotype PiMS ...

Last Updated: 24 Jan 2014

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Augmentation therapy for alpha-1 antitrypsin deficiency: towards a personalised approach.
 

Author(s): Robert A Stockley, Marc Miravitlles, Claus Vogelmeier,

Journal:

 

Intravenous augmentation therapy is the only specific treatment available for emphysema associated with alpha-1 antitrypsin deficiency. Despite large observational studies and limited interventional studies there remains controversy about the efficacy of this treatment due to the ...

Last Updated: 15 Nov 2013

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Is there a therapeutic role for selenium in alpha-1 antitrypsin deficiency?
 

Author(s): Catherine M Greene, Roohi Chhabra, Noel G McElvaney

Journal:

 

Selenium is an essential trace mineral of fundamental importance to human health. Much of its beneficial influence is attributed to its presence within selenoproteins, a group of proteins containing the rare amino acid selenocysteine. There are 25 known human selenoproteins including ...

Last Updated: 12 Mar 2013

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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: 20 May 2014

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Alpha-1 Antitrypsin Deficiency Adult Liver Study
 

Status: Recruiting

Condition Summary: Alpha-1 Antitrypsin Deficiency

 

Last Updated: 2 Jul 2014

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Genomic Research in Alpha-1 Antitrypsin Deficiency
 

Status: Recruiting

Condition Summary: Alpha 1 Antitrypsin Deficiency; AATD

 

Last Updated: 10 Jan 2014

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