PiSZ alpha-1 antitrypsin deficiency (AATD): pulmonary phenotype and prognosis relative to PiZZ AATD and PiMM COPD

摘要: Introduction The PiSZ genotype results in less severe deficiency of alpha-1 antitrypsin (AAT) than PiZZ. Less is known about phenotypic and prognostic features. Methods We studied 699 PiZZ, 126 316 PiMM patients. All AAT (AATD) patients were augmentation naive. compared with PiZZ for clinical phenotype at baseline including CT findings, smoke exposure, progression lung disease survival. Similarly, diagnosed as a result investigation possible (lung index cases) PiMM. Multivariable analytical techniques matching (PiSZ to PiZZ) employed account demographic differences. Results Pack-years smoked FEV1 exhibited negative correlation ZZ (both r=−0.43), emphysema COPD occurring more commonly <20 pack-year exposure. In multivariable analyses, likely have (p<0.01) had better survival (p=0.017), but function decline did not differ significantly. 42% upper-zone-dominant on scan. Analyses level confirmed critical threshold 11 μM, particularly regard phenotypes classical AATD. Significant differences suggested that presented earlier health services Once this was accounted for, risk between although lower (p<0.01). Conclusions are susceptible cigarette pattern may be similar diagnosis usual COPD.