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/.
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