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Mortality in Individuals With Severe Deficiency of 1-Antitrypsin^*

Findings From the National Heart, Lung, and Blood Institute Registry

James K. Stoller, MD, MS, FCCP; Joseph Tomashefski, Jr, MD; Ronald G. Crystal, MD, FCCP(Hon); Alejandro Arroliga, MD, FCCP; Charlie Strange, MD, FCCP; Dermot N. Killian, MD, FCCP; Mark D. Schluchter, PhD; Herbert P. Wiedemann, MD, FCCP; for the ₁-Antitrypsin Deficiency Registry Study Group

^* From the Section of Respiratory Therapy (Dr. Stoller), Department of Pulmonary, Allergy, and Critical Care Medicine, Cleveland Clinic Foundation, Cleveland, OH; Department of Pathology (Dr. Tomashefski), MetroHealth Medical Center, Cleveland, OH; Department of Genetic Medicine (Dr. Crystal), Division of Pulmonary and Critical Care Medicine, Weill Medical College, Cornell University, New York, NY; Section of Critical Care Medicine (Dr. Arroliga), Department of Pulmonary, Allergy, and Critical Care Medicine, Cleveland Clinic Foundation, Cleveland, OH; Division of Pulmonary and Critical Care Medicine (Dr. Strange), Medical University of South Carolina, Charleston, SC; Department of Pulmonary Medicine (Dr. Killian), Mercy Hospital, Portland ME; Department of Pediatrics and Biostatistics and Epidemiology (Dr. Schluchter), Case Western Reserve University, Cleveland, OH; and Department of Pulmonary, Allergy, and Critical Care Medicine (Dr. Wiedemann), Cleveland Clinic Foundation, Cleveland, OH. A list of Alpha 1-Antitrypsin Deficiency Registry Study Group members is given in the ^Appendix.

Correspondence to: James K. Stoller, MD, MS, FCCP, Department of Pulmonary, Allergy, and Critical Care Medicine, The Cleveland Clinic Foundation, 9500 Euclid Ave, A90, Cleveland, OH 44195; e-mail: stollej{at}ccf.org

Study objective: To clarify the mortality rate and causes of death of individuals with ₁-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.

Key Words: ₁-antitrypsin deficiency • cause of death • mortality • registry • standardized mortality ratio

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