Also known as: Alpha-1 deficiency, AAT deficiency, A1At deficiency, Alpha-1 proteinase deficiency
Alpha-1 antitrypsin (AAT) deficiency is a genetic condition that affects mainly the lungs and liver. Normally, AAT is made in the liver and travels in the blood stream to the lungs where it helps shield lung tissue from damage caused by irritants in the air and infections. In people with the commonest forms of AAT deficiency (AATD, the abnormally formed AAT gets stuck in the liver causing liver inflammation and fails to get into the circulation in sufficient quantities to protect the lungs.
Over time, this can lead to chronic inflammation and damage to the lungs with symptoms such as shortness of breath, wheezing and chronic cough, resulting in emphysema (destruction of lung tissue) or chronic obstructive pulmonary disease (COPD) and occasionally lung failure. The abnormal AAT buildup in the liver in AATD can cause scarring of the liver (fibrosis and cirrhosis) and eventually liver failure. AAT deficiency can show up at different ages.
Some people, particularly those with liver disease, have symptoms in childhood, while others may not have problems until adulthood. While there isn’t a cure yet, there are treatments and lifestyle steps (like avoiding smoking and lung irritants) that can help protect lung and liver health and improve quality of life.