Overview
Alpha-1 Antitrypsin Deficiency (AATD) is a genetic disorder caused by a mutation in the SERPINA1 gene, which provides instructions for making the alpha-1 antitrypsin protein. This causes the protein to be improperly folded and to accumulate in the liver cells, where it cannot be secreted into the bloodstream. This can lead to liver damage and inflammation, and in some cases also result in a decrease of functional alpha-1 antitrypsin protein in the blood, leading to lung damage. Diagnosis of AATD is typically made through a combination of blood tests and medical history. Treatment for AATD aims to slow the progression of lung and liver damage, alleviate symptoms, and improve the patient's quality of life.