Being common in people of northern European heritage, affecting approximately 5,000-10,000 individuals in the US, AATD is associated with adult-onset lung disease, particularly COPD. However, varies in severity depending on genotype and serum AAT level, AATD can present also with hepatic dysfunction bronchiectasis or skin symptoms. Individuals with AATD are more prone to C-ANCA-positive vasculitis, particularly granulomatosis with polyangiitis. In approximately one per thousand individuals with AATD, migratory skin nodules, panniculitis, are present, caused by unopposed proteolytic damage with the PI*Z allele.
Individuals with different genotypes carry varying lung disease risks, with PI*ZZ genotype having the highest risk for both liver and lung disease, while PI*SS is not linked to higher risk for clinical disease.
SERPINA1