What is Alpha-1 antitrypsin deficiency?
Alpha-1 antitrypsin deficiency (AATD) is an inherited condition, caused by changes, or mutations, in the SERPINA1 gene, that can lead to lung disease and liver disease. There is a strong risk factor for emphysema in particular, and AATD is a common known genetic risk factor for this. It is caused by low levels of alpha-1 antitrypsin in the blood, which is a protein made in the liver that usually protects the lungs.
SOURCE: Emory University - Department of Human Genetics in collaboration with ThinkGenetic • https://www.thinkgenetic.com/diseases/alpha-1-antitrypsin-deficiency-8724/overview/36229 • DATE UPDATED: 2017-08-29
Alpha-1 Foundation. Retrieved August 28, 2017 from https://www.alpha1.org/
CHEST Foundation. Retrieved from http://www.chestnet.org/Foundation/Patient-Education-Resources/Alpha1-Antitrypsin-Deficiency