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 NICE NG115. 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 NICE NG115.
Key References
- NG115 - Chronic obstructive pulmonary disease in over 16s: diagnosis and management
- CKS - Chronic obstructive pulmonary disease
- CKS - Bronchiectasis
- (Laureano et al., 2014): Alpha-1-antitrypsin deficiency-associated panniculitis: a case report.
- (Silva et al., 2016): Alpha-1-antitrypsin (SERPINA1) mutation spectrum: Three novel variants and haplotype characterization of rare deficiency alleles identified in Portugal.