Association between lung disease severity and cardiovascular event risk in alpha-1 antitrypsin deficiency

Background: Alpha-1 antitrypsin deficiency (AATD) is a genetic condition which gives predisposition to developing chronic obstructive pulmonary disease (COPD). The increased risk of cardiovascular disease (CVD) in non-AATD COPD is well acknowledged but it is unclear whether this is due to shared factors in disease pathogenesis or an epiphenomenon. The QRISK2 score is a validated tool that combines demographics (sex, ethnicity, age) with individual risk-factors (diabetes, hypertension, renal disease) to predict 10-year risk of a cardiovascular event. A value of <10% indicates low risk, 10-20% moderate risk and >20% high risk. Aims: To assess the relationship between lung function (FEV1 % predicted) and QRISK2 score in a cohort of AATD patients. Methods: Data was collected, retrospectively, from patients who attended a specialist AATD clinic between 2015-2021 and provided consent for their data to be used. Results: A total of n=97 patients were included for analysis, consisting of 62% females, majority with the PiZZ phenotype (74%) and a median age of 53. No linear relationship was observed between FEV1 % predicted and QRISK2 but patients with a high QRISK2 (>20%) had lower FEV1 % predicted (median 60% versus 61% and 84% for low and moderate risk, respectively) (p=0.29). Conclusion: No increased QRISK2 was observed for patients with increasing lung disease severity, suggesting cardiovascular disease may occur independently of chronic lung disease. Nevertheless, monitoring for CVD should be considered in patients with severe lung disease, given the incidence in usual COPD.