About AAT Deficiency

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Alpha₁-proteinase inhibitor (A₁-PI) deficiency*, also known as alpha-1 antitrypsin (AAT) deficiency, is an autosomal, co-dominant, hereditary disorder characterized by low serum and lung levels of A₁-PI. Severe forms of the deficiency are frequently associated with slowly progressive, moderate to severe panacinar emphysema that most often manifests in the third to fourth decades of life, resulting in a significantly lower life expectancy.¹

*Also known as Alpha-1, alpha-1 antitrypsin deficiency, AAT Deficiency, AATD, A₁-PI deficiency, A1AD, or hereditary or genetic emphysema.

Individuals with A₁-PI deficiency have little protection against neutrophil elastase (NE) released by a chronic, low-level of neutrophils in their lower respiratory tract, resulting in a protease:protease inhibitor imbalance in the lung. The emphysema associated with A₁-PI deficiency is typically worse in the lower lung zones. It is believed to develop because there are insufficient amounts of A₁-PI in the lower respiratory tract to inhibit NE. This imbalance allows unopposed destruction of the connective tissue framework of the lung parenchyma.¹

The American Lung Association estimates there are approximately 100,000 people in the United States who suffer from alpha-1 antitrypsin (AAT) deficiency. ² It is believed that up to 95% of those with AAT deficiency are undiagnosed.³