Alpha-1 antitrypsin (AAT) deficiency is a rare inherited disorder that can lead to serious chronic obstructive pulmonary disease (COPD). While there’s no cure, treatments and lifestyle changes can help you manage your symptoms and protect your lungs from further damage.
COPD is a group of lung conditions that includes emphysema and chronic bronchitis. The most common symptoms people have as lung disease develops due to AAT deficiency are:
- Shortness of breath
- A chronic cough with phlegm
- Repeated colds
Ronald Crystal, MD, chairman of genetic medicine at Weill Cornell Medicine, said people are most often diagnosed with AAT deficiency after they visit their doctor due to…