What are the key clinical features that suggest a diagnosis of Alpha-1 Antitrypsin Deficiency in adults?

Key clinical features suggesting Alpha-1 Antitrypsin Deficiency (AATD) in adults include early-onset chronic obstructive pulmonary disease (COPD), particularly emphysema predominantly affecting the lower lobes, and a family history of COPD or liver disease. These respiratory symptoms often present before the age of 45 and may be disproportionate to smoking history or environmental exposures ¹. Additionally, adults may present with bronchiectasis without an obvious cause, and unexplained liver disease such as cirrhosis or elevated liver enzymes should raise suspicion. Rarely, AATD can manifest as panniculitis, a painful inflammation of subcutaneous fat, which is a distinctive but uncommon feature (Laureano et al., 2014). Systemic features such as vasculitis or necrotizing panniculitis may also be clues to the diagnosis (Laureano et al., 2014). Genetic testing or serum alpha-1 antitrypsin levels are required to confirm the diagnosis in patients with these clinical features ¹.