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.

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.

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.

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.

Last Updated: 29 Mar 2013

View Details
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

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.

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.

Last Updated: 29 Apr 2014

View Details

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
Top

How do you compare to others with this condition?

Privately answer questions about your health. Let resources, you select, come to you.

Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

 
 

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

View Details
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

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

Not finding the support you need? Show General Support Organizations

 
 
 
 
Top

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 197 free, full-text research articles on human participants. First 3 results:

Infected tracheal diverticulum: a rare association with alpha-1 antitrypsin deficiency.
 

Author(s): Cecília Beatriz Alves Amaral, Sónia Silva, Salvato Feijó

Journal: J Bras Pneumol. ;40(6):669-72.

 

Tracheal diverticulum, defined as a benign outpouching of the tracheal wall, is rarely diagnosed in clinical practice. It can be congenital or acquired in origin, and most cases are asymptomatic, typically being diagnosed postmortem. We report a case of a 69-year-old woman who was ...

Last Updated: 22 Jan 2015

Go To URL
Unusually difficult clinical presentation of an infant suffering from congenital Cytomegalovirus (CMV) infection combined with alpha 1-antitrypsin (A1AT) deficiency.
 

Author(s): Ines Potočnjak, Goran Tešović, Andrea Tešija Kuna, Mario Stefanović, Orjena Zaja

Journal:

 

Congenital Cytomegalovirus (CMV) infection and alpha 1-antitrypsin (A1AT) deficiency are separately well described entities, but their simultaneous occurrence can pose a special challenge to a clinician, especially dealing with optimal diagnostic as well as therapeutic approach. Congenital ...

Last Updated: 29 Oct 2014

Go To URL
Severe alpha-1 antitrypsin deficiency in composite heterozygotes inheriting a new splicing mutation QOMadrid.
 

Author(s): Beatriz Lara, Maria Teresa Martínez, Ignacio Blanco, Cristina Hernández-Moro, Eladio A Velasco, Ilaria Ferrarotti, Francisco Rodriguez-Frias, Laura Perez, Irene Vazquez, Javier Alonso, Manuel Posada, Beatriz Martínez-Delgado

Journal:

 

Severe Alpha-1 Antitrypsin (AAT) deficiency is a hereditary condition caused by mutations in the SERPINA1 gene, which predisposes to lung emphysema and liver disease. It is usually related to PI*Z alleles, and less frequent to rare and null (QO) alleles. Null-AAT alleles represent ...

Last Updated: 16 Oct 2014

Go To URL

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

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

Go To URL
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

Go To URL
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

Go To URL
 
 
Top

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: 22 Jul 2015

Go to URL
Alpha-1 Antitrypsin Deficiency Adult Liver Study
 

Status: Recruiting

Condition Summary: Alpha-1 Antitrypsin Deficiency

 

Last Updated: 5 Mar 2015

Go to URL
Genomic Research in Alpha-1 Antitrypsin Deficiency
 

Status: Recruiting

Condition Summary: Alpha 1 Antitrypsin Deficiency; AATD

 

Last Updated: 10 Jan 2014

Go to URL