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General practice and family medicine
Detection of nocturnal hypoxaemia leading to a diagnosis of COPD and PiMZ alpha-1 antitrypsin deficiency
  1. Salah Daghlas,
  2. Sheridan Evans,
  3. Rachel Holder and
  4. Sheila McGreevy
  1. Internal Medicine, The University of Kansas Medical Center, Kansas City, Kansas, USA
  1. Correspondence to Dr Salah Daghlas; sdaghlas{at}kumc.edu

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.

  • Respiratory medicine
  • Genetics

https://doi.org/10.1136/bcr-2024-263933

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    Footnotes

    • Contributors The following authors were responsible for drafting of the text, sourcing and editing of clinical images, investigation results, drawing original diagrams and algorithms and critical revision for important intellectual content: SD, SE, RH and SM. The following authors gave final approval of the manuscript: SD, SE, RH, SM. SM is responsible for the overall content as guarantor.

    • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

    • Case reports provide a valuable learning resource for the scientific community and can indicate areas of interest for future research. They should not be used in isolation to guide treatment choices or public health policy.

    • Competing interests None declared.

    • Provenance and peer review Not commissioned; externally peer reviewed.