Alpha 1-antitrypsin deficiency is a genetic disorder that affects the production of a protein called alpha 1-antitrypsin (AAT) in the liver. AAT is responsible for protecting the lungs from damage caused by enzymes released by white blood cells. In individuals with this deficiency, the liver produces an abnormal form of AAT that cannot be effectively released into the bloodstream. As a result, the lungs are left vulnerable to inflammation and damage, leading to conditions such as chronic obstructive pulmonary disease (COPD) and emphysema.
This condition is typically inherited in an autosomal codominant manner, meaning that individuals with two copies of the defective gene are at higher risk of developing severe symptoms. However, the severity of the disease can vary widely, with some individuals experiencing mild or no symptoms.
Diagnosis of alpha 1-antitrypsin deficiency involves blood tests to measure AAT levels and genetic testing to identify the specific gene mutations. Treatment options include AAT replacement therapy, which involves regular infusions of purified AAT to help protect the lungs.