Chest
Volume 128, Issue 4, October 2005, Pages 1989-1994
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Clinical Investigations
Delay in Diagnosis of α1-Antitrypsin Deficiency: A Continuing Problem

https://doi.org/10.1378/chest.128.4.1989Get rights and content

Background and study objectives

α1-Antitrypsin (AAT) deficiency is common but underrecognized. A 1994 mail survey showed a long delay between the onset of symptoms and the initial diagnosis of AAT deficiency. In 2003, we carried out a similar mail survey of AAT-deficient individuals to determine whether any delay in diagnosis experienced by individuals with a more recent diagnosis had become shorter. We also determined whether individuals living near medical centers with an expressed interest in AAT deficiency experienced shorter diagnostic delays than those living at a distance.

Methods

Results from mail surveys of two different cohorts were compared: a 1994 survey of 304 individuals with severe AAT deficiency and a 2003 survey of 1,953 AAT-deficient individuals. In the 2003 survey cohort, diagnostic delay intervals were analyzed by calendar year of initial diagnosis, rural vs urban residence, visit to a liver or lung specialist within the last year, and living within 50 miles of a medical center with particular expertise in AAT deficiency. One thousand nine hundred fifty-three individuals responded to the 2003 mail survey (37.4%).

Results

In the 2003 cohort, the mean ± SD diagnostic delay was 5.6 ± 8.5 years, compared with 7.2 ± 8.3 years for the 1994 cohort (p = 0.002). In the 2003 cohort, younger patients and male patients experienced shorter diagnostic delays than older patients and female patients (p < 0.0001 and p = 0.007, respectively). For example, the delay was 6.5 ± 8.8 years for those born in the 1940s, as compared with 0.43 ± 1.08 years for those born after 1980. Neither urban residence nor living near a center with expertise in AAT deficiency were associated with a shortened diagnostic delay interval.

Conclusion

Although these results show some improvement in the mean diagnostic delay in the 9-year period separating the two studies, underrecognition of AAT deficiency persists. Diagnostic delay of AAT deficiency is longer in women and in older individuals. Educational efforts are underway to enhance clinicians' diagnostic suspicion of AAT deficiency and permit earlier diagnosis and attendant benefits.

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Materials and Methods

A four-page mail survey was commissioned in 2003 by the three aforementioned patient-based organizations for development and distribution by an international research organization (Schulman, Ronca, and Bucuvalas, Inc.). Confidentiality agreements between Schulman, Ronca, and Bucuvalas, Inc. and the three sponsoring organizations permitted construction of a single, combined mailing list of 5,222 AAT-deficient individuals that omitted duplicates. Accompanied by a cover letter that explained the

Results

By 2 months after the initial mailing, responses to the 2003 survey were received from 1,953 individuals (37.4% response rate). Table 1 summarizes the demographic and presenting characteristics of respondents in this recent survey and compares these individuals to respondents in the 1994 survey cohort. As shown, 49% of respondents to the 2003 survey were female, and the mean ± SD age was 53.1 ± 13.2 years. Fifty-two percent reported having emphysema, 38% reported chronic bronchitis, and 8%

Discussion

The main findings in this study regarding the interval between first symptom of AAT and first diagnosis of AAT deficiency are as follows: (1) the diagnostic delay interval remains long without evidence of significant shortening over 2 decades (ie, from before 1980 to after 2000); in fact, the diagnostic delay interval increased over time in both surveys; (2) while the diagnostic delay interval increased over 2 decades for both cohorts, the overall diagnostic delay interval was significantly

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