Alpha-1 Antitrypsin Deficiency: Clinical Recognition, Diagnostic Strategy, and Evidence-Based Management — A Clinician-Focused Update
Adapted from latest guidelines (GOLD 2026, CHEST 2025, ERS/ATS 2023 updates) and recent clinical trial data (e.g., PILOT, RESOLVE, NCT03914827), this review integrates pathophysiology, diagnostic algorithm optimization, and targeted therapeutic interventions for practicing pulmonologists, hepatologists, and genetic counselors. I. Pathophysiology & Clinical Spectrum: Beyond “Classic” Emphysema Alpha-1 antitrypsin (AAT) deficiency (MIM #107400) is an autosomal…
