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Variability of Pulmonary Function in Alpha-1-Antitrypsin Deficiency: Clinical Correlates

Edwin K. Silverman; John A. Pierce, MD; Michael A. Province, PhD; D. C. Rao, PhD; and Edward J. Campbell, MD
[+] Article, Author, and Disclosure Information

Grant Support: In part by NIH training grants HL 07317 and GMO 7200, by NIH Program Project Grant HL 29594, and by NIH grant GM 28719.

Requests for Reprints: Edward J. Campbell, MD, Division of Respiratory, Critical Care, and Occupational Pulmonary Medicine, Department of Medicine, University of Utah Health Sciences Center, 50 N. Medical Drive, Salt Lake City, UT 84132.

Current Author Addresses: Mr. Silverman: Respiratory and Critical Care Division, Department of Medicine, Jewish Hospital of St. Louis, 216 S. Kingshighway, St. Louis, MO 63110.

Dr. Campbell: Division of Respiratory, Critical Care, and Occupational Pulmonary Medicine, Department of Medicine, University of Utah Medical Center, 50 N. Medical Drive, Salt Lake City, UT 84132.

Drs. Province and Rao: Division of Biostatistics, Washington University School of Medicine, 660 South Euclid, Box 8067, St. Louis, MO 63110.

Dr. Pierce: Pulmonary Division, Department of Internal Medicine, Washington University School of Medicine, 660 South Euclid, Box 8052, St. Louis, MO 63110.

© 1989 American College of PhysiciansAmerican College of Physicians

Ann Intern Med. 1989;111(12):982-991. doi:10.7326/0003-4819-111-12-982
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Study Objective: To determine the range of pulmonary function variability in alpha-1-antitrypsin-deficient persons and to identify epidemiologic factors and pulmonary symptoms and conditions associated with this variability.

Design: Case series ascertained through investigation of extant obstructive lung disease (index cases, 22 subjects) or by other means (non-index cases, 30 subjects).

Setting: Referral-based pulmonary division at a tertiary care medical center.

Participants: Fifty-two alpha-1-antitrypsin-deficient persons of type Pi Z ascertained by: extant chronic obstructive pulmonary disease (22 cases), family studies (20 cases), liver disease (4 cases), population screening (4 cases), and other pulmonary problems (2 cases).

Measurements and Main Results: Pulmonary function tests and a version of the American Thoracic Society 1978 standard respiratory epidemiology questionnaire were used. Persons of type Pi Z who were not specifically ascertained with chronic obstructive pulmonary disease had values of forced expiratory volume in 1 second over 65% of predicted in 20 out of 30 cases and frequently had normal lung function. Univariate and multivariate analyses of possible causes of lung disease showed that the following factors were significant (P < 0.05): pulmonary symptoms (effects associated with chronic obstructive pulmonary disease), including dyspnea and chronic cough; age and pack-years of smoking (epidemiologic correlates); and other pulmonary conditions (potential causes or effects) including asthma, pneumonia, and episodes of increased cough and phlegm. Finally, we found a striking excess of questionnaire-reported parental emphysema in families of type Pi Z persons with chronic obstructive pulmonary disease compared with families of type Pi Z persons without disease.

Conclusions: Many persons with alpha-1-antitrypsin deficiency do not have clinically significant lung function impairment; the perceived natural history of antitrypsin deficiency has been distorted by ascertainment bias. In addition to cigarette smoking, it appears that asthma, lower respiratory infections, and possibly some familial factors contribute to a severe clinical course. Follow-up of our cohort with widely varying lung function will provide insights into the natural history of the emphysema associated with alpha-1-antitrypsin deficiency.





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