Alpha-1 Antitrypsin Deficiency, AAT Deficiency
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. Because of a gene problem, some people have little or none of it. Not having enough AAT puts you at risk of emphysema or liver problems. Three in four adults with a severe deficiency will get emphysema, some when they are younger than 40. If you smoke, you increase your risk. Children with AAT deficiency can develop liver problems that last their whole lives. AAT deficiency can be treated but not cured.1
Emphysema is a condition that leads to difficulty expelling air from the lungs, making breathing more difficult. Hereditary A1PI deficiency is associated with pulmonary emphysema.
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
References:
REF FILE #DH-128-67
Related Diseases and Disorders
|