Mortality in individuals with severe deficiency of α1-antitrypsin: Findings from the National Heart, Lung, and Blood Institute Registry

James K. Stoller, Joseph Tomashefski, Ronald Crystal, Alejandro Arroliga, Charlie Strange, Dermot N. Killian, Mark D. Schluchter, Herbert P. Wiedemann

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45 Citations (Scopus)

Abstract

Study objective: To clarify the mortality rate and causes of death of individuals with α1-antitrypsin (AAT) deficiency, the Death Review Committee (DRC) of the National Heart, Lung, and Blood Institute Registry of Individuals with Severe AAT Deficiency reviewed all available medical records regarding the deaths of study subjects during Registry follow-up (up to 7.2 years). Methods: Individual determinations by each member of the three-person DRC led to consensus judgments regarding the underlying cause and the immediate and contributing causes of death. Results: Of the 1,129 Registry subjects, 204 died (18.1%) [approximately 3%/yr]. Record availability permitted detailed review in 120 decedents, and death certificates were available in 56 of the remaining 84 subjects (67%). Emphysema and cirrhosis were the most common underlying causes of death (72% and 10%, respectively), with malignancy and diverticulitis accounting for 3% of deaths each. To assess attributable mortality, standardized mortality ratio analysis was performed and indicated that excess mortality was ascribable entirely to lung and liver disease. Conclusions: We conclude that severe AAT deficiency poses a significant threat to health, that severe airflow obstruction is a major determinant of mortality, and that liver and lung disease account for the excess mortality in affected individuals. These findings support current efforts to enhance diagnostic recognition and treatment of AAT-deficient individuals.

Original languageEnglish
Pages (from-to)1196-1204
Number of pages9
JournalChest
Volume127
Issue number4
DOIs
Publication statusPublished - 1 Jan 2005
Externally publishedYes

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Keywords

  • Cause of death
  • Mortality
  • Registry
  • Standardized mortality ratio
  • α-antitrypsin deficiency

ASJC Scopus subject areas

  • Pulmonary and Respiratory Medicine
  • Critical Care and Intensive Care Medicine
  • Cardiology and Cardiovascular Medicine

Cite this

Stoller, J. K., Tomashefski, J., Crystal, R., Arroliga, A., Strange, C., Killian, D. N., Schluchter, M. D., & Wiedemann, H. P. (2005). Mortality in individuals with severe deficiency of α1-antitrypsin: Findings from the National Heart, Lung, and Blood Institute Registry. Chest, 127(4), 1196-1204. https://doi.org/10.1378/chest.127.4.1196