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

 

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

 

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

ERAD defects and the HFE-H63D variant are associated with increased risk of liver damages in Alpha 1-Antitrypsin Deficiency.
 

Author(s): Philippe Joly, Hélène Vignaud, Julie Di Martino, Mathias Ruiz, Roman Garin, Lioara Restier, Abdelouahed Belmalih, Christelle Marchal, Christophe Cullin, Benoit Arveiler, Patricia Fergelot, Aaron D Gitler, Alain Lachaux, Julien Couthouis, Marion Bouchecareilh

Journal:

 

The most common and severe disease causing allele of Alpha 1-Antitrypsin Deficiency (1ATD) is Z-1AT. This protein aggregates in the endoplasmic reticulum, which is the main cause of liver disease in childhood. Based on recent evidences and on the frequency of liver disease occurrence ...

Last Updated: 31 Dec 1969

Go To URL
The first report of two cases of fatal liver injury due to anti-tuberculosis drugs in the presence of alpha-1 antitrypsin deficiency.
 

Author(s): Shahram Habibzadeh, Jafar Mohammad Shahi, Hassan Ghobadi, Nasrollah Maleki

Journal: Int J Mycobacteriol. ;6(2):187-190.

 

Tuberculosis (TB) is a major global health problem. Awareness of liver injury due to anti-TB therapy is vital because fulminant hepatic failure is a devastating and often fatal condition without liver transplantation. Here, we report for the first time, two patients of fatal liver ...

Last Updated: 31 Dec 1969

Go To URL
Deterioration of quality of life is associated with the exacerbation frequency in individuals with alpha-1-antitrypsin deficiency - analysis from the German Registry.
 

Author(s): Nikolas Bernhard, Philipp M Lepper, Claus Vogelmeier, Martina Seibert, Stefan Wagenpfeil, Robert Bals, Sebastian Fähndrich

Journal:

 

Alpha-1-antitrypsin deficiency (AATD) is a rare hereditary disease that is associated with a higher risk to develop chronic obstructive pulmonary disease and liver cirrhosis. Previous cross-sectional studies on AATD individuals have shown a relationship between worse St George's Respiratory ...

Last Updated: 31 Dec 1969

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

Treatment of lung disease in alpha-1 antitrypsin deficiency: a systematic review.
 

Author(s): Ross G Edgar, Mitesh Patel, Susan Bayliss, Diana Crossley, Elizabeth Sapey, Alice M Turner

Journal:

 

Alpha-1 antitrypsin deficiency (AATD) is a rare genetic condition predisposing individuals to chronic obstructive pulmonary disease (COPD). The treatment is generally extrapolated from COPD unrelated to AATD; however, most COPD trials exclude AATD patients; thus, this study sought ...

Last Updated: 31 Dec 1969

Go To URL
Gene Therapy for Alpha-1 Antitrypsin Deficiency Lung Disease.
 

Author(s): Maria J Chiuchiolo, Ronald G Crystal

Journal: Ann Am Thorac Soc. 2016 Aug;13 Suppl 4():S352-69.

 

Alpha-1 antitrypsin (AAT) deficiency, characterized by low plasma levels of the serine protease inhibitor AAT, is associated with emphysema secondary to insufficient protection of the lung from neutrophil proteases. Although AAT augmentation therapy with purified AAT protein is efficacious, ...

Last Updated: 31 Dec 1969

Go To URL
Alpha-1 antitrypsin deficiency: An underrecognized, treatable cause of COPD.
 

Author(s): James K Stoller

Journal: Cleve Clin J Med. 2016 Jul;83(7):507-14.

 

Alpha-1 antitrypsin deficiency is common but underrecognized. Because delayed diagnosis is thought to be associated with adverse outcomes, clinicians are encouraged to follow available guidelines and test for the disease in all symptomatic adults with fixed airflow obstruction. The ...

Last Updated: 31 Dec 1969

Go To URL
 
 
Top

Clinical Trial Information This information is provided by ClinicalTrials.gov

Alpha-1 Antitrypsin Deficiency Adult Liver Study
 

Status: Recruiting

Condition Summary: Alpha-1 Antitrypsin Deficiency

 

Last Updated: 16 Jan 2018

Go to URL
The Impact of Delayed Diagnosis of Alpha-1 Antitrypsin Deficiency
 

Status: Recruiting

Condition Summary: Alpha 1-Antitrypsin Deficiency

 

Last Updated: 31 Jan 2017

Go to URL
Epigenetic Regulation of Immunity in Alpha-1 Anti-trypsin Deficiency
 

Status: Recruiting

Condition Summary: Alpha 1-Antitrypsin Deficiency

 

Last Updated: 3 Apr 2018

Go to URL