BACKGROUND: Alpha-1 antitrypsin deficiency is frequently underrecognized. Individuals with symptoms often experience long diagnostic delays. Although a delayed diagnosis is logically presumed to be associated with adverse effects, confirmatory evidence that a delay in diagnosis confers harm is sparse. The current study characterized the association between a delayed diagnosis and the clinical status at the time of diagnosis. METHODS: Patients with newly diagnosed severe deficiency of alpha-1 antitrypsin received questionnaires that assessed self-reported diagnostic delay, the St George Respiratory Questionnaire (SGRQ) and COPD Assessment Test. Results of spirometry were retrieved and the relationship between the diagnostic delay interval and FEV1% predicted, SGRQ, and COPD Assessment Test were assessed. RESULTS: Forty subjects were recruited (31 with PI*ZZ, 9 with PI*SZ). Values for FEV1% predicted, SGRQ, and COPD Assessment Test were available for 17, 40, and 32 subjects, respectively. The relationship between the diagnostic delay interval and all outcomes was directionally consistent with an adverse impact of increasing diagnostic delay. For each additional year of diagnostic delay, the subject’s FEV1% predicted decreased by 0.3% (P =.66), The SGRQ Total score increased by 1.6 points (P
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Tejwani, V., Nowacki, A. S., Fye, E., Sanders, C., & Stoller, J. K. (2019). The impact of delayed diagnosis of alpha-1 antitrypsin deficiency: The association between diagnostic delay and worsened clinical status. Respiratory Care, 64(8), 915–922. https://doi.org/10.4187/respcare.06555
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