Alpha-1-antitrypsin deficiency

Other names for alpha-1 antitrypsin deficiency include AATD, AAT, alpha-1 protease inhibitor deficiency, alpha-1 related emphysema, genetic emphysema, hereditary pulmonary emphysema, and inherited emphysema.

Alpha-1 antitrypsin deficiency (AATD) is likely an under-recognized genetic condition that can cause lung disease and liver disease. Symptoms can vary from person to person and be difficult to diagnose. The first signs of lung disease usually happen between ages 20-50 years of age. Smoking is a major risk factor for lung disease in people with the condition. AATD can cause emphysema, which can progress to chronic obstructive pulmonary disease (COPD) faster in smokers. The prevalence of AATD varies significantly from country to country and it is more common in people of northern European heritage. As of 2017, it occurs in about 1 in 5,000-7,000 North Americans and 1 in 1,500-3,000 Scandinavians. It is seen much less often in people of Asian heritage. Different changes, or mutations, in the SERPINA1 gene are associated with AATD, and combinations of these usually cause different symptoms in people.