Undiagnosed Chronic Obstructive Pulmonary Disease Contributes to the Burden of Health Care Use

Background: Alpha-1 antitrypsin (AAT) deficiency (AATD) is an inherited condition characterized by low AAT serum concentrations and is associated with an accelerated rate of lung function decline, early onset emphysema and an increased risk of Chronic Obstructive Pulmonary Disease (COPD). AATD is caused by genetic mutations in the SERPINA1 gene. DNA sequencing provides a complete assessment of the mutated gene by detecting its conventional mutated alleles and its rare and novel genetic variants. Little is known about how common these deficient alleles are in the Canadian population and their individual and cumulative impacts on COPD phenotypes including lung function decline and emphysema.

Granularity of SERPINA1 alleles by DNA sequencing in CanCOLD

Gupta, Nisha, et al. European Respiratory Journal, 2020. Key findings: Poor sleep quality in individuals with COPD is associated with risk of symptom-based (dyspnea or sputum change ≥ 48 h) and event-based (symptoms plus medication or unscheduled health services use) COPD exacerbations. Background: Alpha-1 antitrypsin (AAT) deficiency (AATD) is an inherited condition characterized by low … Read more