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Alpha 1-antitrypsin deficiency (AAT deficiency), also referred to as alpha 1, is a relatively common genetic disorder characterized by low levels of alpha 1-antitrypsin (AAT), a protein found in the blood. This deficiency manifests most commonly as lung disease, less commonly, as liver disease, or more rarely, as a skin condition called panniculitis.
Prevalence, as determined by population based screenings, suggests 80,000 to 100,000 Americans have severe AAT deficiency or approximately 1 in 3,000 individuals. Given this high prevalence, it is surprising that many in the medical community perceive AAT deficiency to be rare. 95% of those estimated to have AAT deficiency have been not been identified.
The Association is dedicated to the identification, control and cure of alpha 1 antitrypsin deficiency. We expect to achieve that aim through our education materials and programs, connection with support groups, and providing advocacy efforts at a national level.