A1AT deficiency (AATD) results in uninhibited neutrophil elastase activity, and this imbalance can lead to lung damage, including emphysema.
- Caused by low levels of alpha1 antitrypsin (A1AT), a protein synthesized and secreted by the liver
- A1AT protects the lungs from infection and lung diseases such as emphysema and COPD
- More than 20 million individuals in the United States possess the genetically deficient alleles that cause Alpha-1 antitrypsin deficiency
- Affects up to 5% of the approximately 12 million patients with COPD in the United States
- An estimated 100,000 individuals are affected in the United States
- An estimated 90% have not been diagnosed, and fewer are being treated
- Lung-related symptoms usually develop between the ages of 20 and 40