Detection of nocturnal hypoxaemia leading to a diagnosis of COPD and PiMZ alpha-1 antitrypsin deficiency.

Abstract

Alpha-1 antitrypsin deficiency (AATD) is underdiagnosed, with a significant gap between documented cases and estimated prevalence. Attempts to bridge this gap include published guidelines emphasising the importance of screening for AATD and educational campaigns directed to the public. Early detection has clinical ramifications for optimal management of the patient with AATD, as well as for prevention of clinical disease in affected family members through early modification of environmental factors. Our case report describes a patient with minimally symptomatic chronic obstructive pulmonary disease with AATD, diagnosed in large part due to the patient detecting nocturnal hypoxaemia on her smartwatch. This highlights the emerging role of patient-initiated wearable health technology in diagnosing clinical conditions before traditional symptoms are significant, thus opening another potential avenue for bridging the gap between documented cases of AATD and the estimated prevalence.