The direct medical costs of alpha(1)-antitrypsin deficiency

Chest. 2001 Mar;119(3):745-52. doi: 10.1378/chest.119.3.745.


Background: For individuals with emphysema because of severe alpha(1)-antitrypsin deficiency, specific therapy called IV augmentation therapy has been available since 1989. Such therapy consists of IV infusion of pooled human plasma alpha(1)-antiprotease.

Methods: To assess the direct medical costs of having alpha(1)-antitrypsin deficiency, the current study surveyed members of the Alpha One Foundation Registry for Individuals With alpha(1)-Antitrypsin Deficiency regarding their annual expenditures for treatment of this disease. Data regarding demographic features, alpha(1)-antitrypsin status, and health-resource utilization were collected from a self-administered questionnaire. Respondents were asked to provide total health-care expenditures, but costs by specific items of care (eg, drugs, physician visits, etc) were not available.

Results: Mean annual cost estimates were higher for PI*ZZ-phenotype individuals ($30,948, n = 292) than for non-PI*ZZ-phenotype individuals ($20,673, n = 53; p = 0.049). Among PI*ZZ-phenotype individuals, self-reported costs of health-care services were further analyzed for those 288 individuals whose alpha(1)-antiprotease use status was reported. For the 185 current alpha(1)-antiprotease users, the mean annual cost was $40,123 (median, $36,000).

Conclusions: Annual health-care expenditures by individuals with alpha(1)-antitrypsin deficiency are very high, whether or not they are currently receiving augmentation therapy. Augmentation therapy adds substantial costs, especially for heavier individuals who are receiving weekly infusions.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Direct Service Costs / statistics & numerical data*
  • Female
  • Health Care Costs / statistics & numerical data
  • Health Expenditures / statistics & numerical data*
  • Humans
  • Infusions, Intravenous
  • Male
  • Middle Aged
  • Phenotype
  • Pulmonary Emphysema / drug therapy*
  • Pulmonary Emphysema / economics
  • Registries / statistics & numerical data
  • Surveys and Questionnaires
  • alpha 1-Antitrypsin / economics*
  • alpha 1-Antitrypsin / therapeutic use*
  • alpha 1-Antitrypsin Deficiency / drug therapy*
  • alpha 1-Antitrypsin Deficiency / economics*


  • alpha 1-Antitrypsin