Trends in the diagnosis of symptomatic patients with alpha1-antitrypsin deficiency between 1968 and 2003

Chest. 2005 Sep;128(3):1179-86. doi: 10.1378/chest.128.3.1179.


Background: Alpha1-antitrypsin deficiency (AATD) is usually underrecognized, with only 5% of cases being diagnosed in the estimated 100,000 affected individuals in the United States. To support current guidelines recommending AATD testing of all individuals with COPD, we analyzed the diagnostic experience of a large cohort of symptomatic patients with AATD.

Methods: A total of 1,020 members of AlphaNet, a not-for-profit health management company devoted to patients with AATD, provided information regarding their AATD diagnostic experience as part of a larger survey-based outcome study.

Results: The average age at diagnosis was 45.5 +/- 9.5 years, and the average interval between the onset of symptoms and diagnosis was 8.3 +/- 6.9 years (+/- SD); 30.8% were diagnosed in patients > 50 years old. Two thirds of the diagnoses were made by the first or second physician, and 20% by the fourth or more physicians. From 1968 to 2003, there was a steady increase in age at diagnosis (p < 0.05), the number of physicians required for diagnosis (p > 0.05), and years with symptoms before diagnosis (p > 0.05), while the proportion of cases diagnosed by the first or second physician decreased (p < 0.001). Individuals with a diagnosis at < 35 years of age saw fewer physicians than other age groups (p < 0.05), and show a tendency toward a shorter diagnostic interval over time (p > 0.05). Diagnoses were made in men earlier than in women (p < 0.05), and the proportion of individuals in whom AATD was detected because of asthma or COPD has increased (p < 0.05).

Conclusion: There has not been a significant improvement in earlier disease diagnosis between 1968 and 2003. There has been improved AATD detection in older individuals. The diagnostic delay is still significant, and efforts should be directed to increase early AATD detection by health-care providers and patients.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Cohort Studies
  • Female
  • Humans
  • Internet
  • Male
  • Mass Screening / trends*
  • Middle Aged
  • Pulmonary Disease, Chronic Obstructive / diagnosis*
  • Pulmonary Disease, Chronic Obstructive / etiology
  • alpha 1-Antitrypsin Deficiency / complications
  • alpha 1-Antitrypsin Deficiency / diagnosis*