Alpha-1 antitrypsin deficiency
Other Names for this Disease
- AAT deficiency
- A1AT deficiency
- Alpha 1 antitrypsin deficiency
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protein in the blood. AAT is made in the liver and sent through the bloodstream to the lungs, to protect the lungs from damage. Having low levels of ATT (or no ATT) can allow the lungs to become damaged, making breathing hard. Age of onset and severity of AATD can vary based on how much ATT an affected person is missing. In adults, symptoms may include shortness of breath; reduced ability to exercise; wheezing; respiratory infections; fatigue; vision problems; and weight loss. Some people have chronic obstructive pulmonary disease (COPD) or asthma. Liver disease (cirrhosis) may occur in affected children or adults. Rarely, AATD can cause a skin condition called panniculitis. AATD is caused by mutations in the SERPINA1 gene and is inherited in a codominant manner. Treatment is based on each person's symptoms and may include bronchodilators; antibiotics for upper respiratory tract infections; intravenous therapy of AAT; and/or lung transplantation in severe cases.Alpha-1 antitrypsin deficiency (AATD) is a disorder that causes a deficiency or absence of the alpha-1 antitrypsin (AAT)
Last updated: 4/6/2016
- Learning About Alpha-1 Antitrypsin Deficiency (AATD). NHGRI. January 4, 2012; https://www.genome.gov/19518992.
- Alpha-1 antitrypsin deficiency. Genetics Home Reference. January 2013; http://www.ghr.nlm.nih.gov/condition/alpha-1-antitrypsin-deficiency.
- James K Stoller, Felicitas L Lacbawan, and Loutfi S Aboussouan. Alpha-1 Antitrypsin Deficiency. GeneReviews. May 1, 2014; http://www.ncbi.nlm.nih.gov/books/NBK1519/.
- Genetics Home Reference (GHR) contains information on Alpha-1 antitrypsin deficiency. This website is maintained by the National Library of Medicine.
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- The National Heart, Lung, and Blood Institute (NHLBI) has information on this topic. NHLBI is part of the National Institutes of Health and supports research, training, and education for the prevention and treatment of heart, lung, and blood diseases.
- The National Human Genome Research Institute's (NHGRI) website has an information page on this topic. NHGRI is part of the National Institutes of Health and supports research on the structure and function of the human genome and its role in health and disease.
- The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
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- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Alpha-1 antitrypsin deficiency. Click on the link to view a sample search on this topic.