Patients with alpha-1 antitrypsin deficiency (AATD) may be predisposed to develop lung disorders such as chronic obstructive pulmonary disease (COPD), which can impact their health-related quality of life (HRQoL), according to findings from a cross-sectional study published in the American Journal of Respiratory and Critical Care Medicine.

The researchers sought to examine the characteristics associated with HRQoL in individuals with AATD-related lung diseases. The current analysis included 4694 participants in AlphaNet—a health management organization that enrolls individuals with AATD and pulmonary diseases who reside in the United States. Data for the present study were obtained between 2008 and 2019 through structured phone interviews that were conducted by AlphaNet coordinators.

Study participants were enrolled if they provided data on age, sex, breathlessness, frequency of COPD exacerbations in the previous year, oxygen use, and productive cough in the 2 years prior to study enrollment.

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The impact of COPD on participants’ respiratory health and daily activities was measured via the St. George’s Respiratory Questionnaire (SGRQ), with higher scores indicative of worse HRQoL. The modified Medical Research Council (mMRC) dyspnea scale was used to evaluate participants’ self-reported breathlessness.

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Results of the study showed that the majority of the patient cohort had severe deficiency genotypes (ie, ZZ, ZNull, or NullNull). The mean of the SGRQ total score was 45.7 (range, 31-60), with the means/ranges of the subscale scores as follows:

  • Symptoms: mean, 47.3; range, 30 to 65
  • Activities: mean, 64.8; range, 48 to 86
  • Impact: mean, 34.3; range, 18 to 48

The means of the SGRQ total and subscale scores were statistically significantly worse among younger patients, participants who regularly used oxygen, individuals who had experienced frequent COPD exacerbations in the prior year, those who had reported a daily productive cough for 3 months or more each year over the prior 2 years, and patients with higher mMRC dyspnea scores (P <.0001 for all). A person’s sex was not associated with SGRQ total or subscale scores.

Further, a significant positive dose-response relationship between SGRQ total score and mMRC, as well as between SGRQ total score and frequency of COPD exacerbations, was observed in adjusted analyses, which was indicative of worse HRQoL with increased frequency of exacerbations and higher dyspnea scores. In fact, patients with mMRC scores of 3 and 4 had SGRQ total scores that were 19.6 and 26.5 points greater, respectively, than those of participants who reported mMRC scores of 0 (P <.0001).

Individuals who reported regular oxygen use and those experiencing a productive cough had more than 4-point SGRQ total scores compared with their counterparts (P <.0001). In adjusted analyses, participants 65 years of age or older exhibited SGRQ total scores that were more than 6 points lower than scores in participants less than 50 years of age, thus demonstrating better HRQoL among older patients.

“Further longitudinal studies are needed to evaluate changes in HRQoL over time in this population,” the researchers concluded.


Choate R, Holm KE, Sandhaus RA, Mannino DM, Strange C. Health-related quality of life in alpha-1 antitrypsin deficiency-associated COPD. Am J Respir Crit Care Med. Published online August 15, 2023. doi:10.1164/rccm.202304-0697LE