Alpha-1 antitrypsin deficiency is an inherited disorder that can cause lung disease in adults and liver disease in adults and children. Alpha-1 antitrypsin (AAT) is a protein that protects the lungs. The liver usually makes the protein, and releases it into the bloodstream. Some people have little or none of it. Not having enough AAT increases the risk of emphysema or liver problems. Three in four adults with a severe deficiency will get emphysema, some when they are younger than 40. AAT deficiency can be treated but not cured.1 In dogs, alpha-1 antitrypsin deficiency also causes a rare skin condition known as panniculitis, which is characterized by hardened skin with painful lumps or patches. Panniculitis varies in severity and can occur at any age.2
- Alpha-1 Antitrypsin Deficiency. MedlinePlus.
- Alpha-1 antitrypsin deficiency. Genetic Home Reference. January 2007