Clinical features and history of the destructive lung disease associated with alpha-1-antitrypsin deficiency of adults with pulmonary symptoms

M. L. Brantly, L. D. Paul, B. H. Miller, R. T. Falk, M. Wu, R. G. Crystal

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Abstract

Alpha-1-antitrypsin (α1AT) deficiency is a hereditary disorder characterized in adults by a high risk for the development of severe destructive lung disease at an early age. The present study was designed to draw conclusions concerning the characteristics of a referral population of 124 patients with α1AT deficiency and symptomatic emphysema. Typically, the α1AT level was 30 mg/dl, and the α1AT phenotype was almost always PiZZ. The individuals in this population were most often male, caucasian, and ex-smokers, and they had become dyspneic between 25 and 40 yr of age. Most routine blood tests were normal. The chest radiographs and ventilation-perfusion studies typically showed abnormalities with a lower zone distribution, and about one third of the study population had evidence suggestive of pulmonary hypertension. Lung function tests were typical for emphysema; the FEV1 and DL(CO) were the parameters most dramatically reduced, and the annual rate of decline of those parameters was greater than that of the general population. The cumulative probability of survival of this population indicated a significantly shortened lifespan with a mean survival of 16% at 60 yr of age compared with 85% for normal persons.

Original languageEnglish
Pages (from-to)327-336
Number of pages10
JournalAmerican Review of Respiratory Disease
Volume138
Issue number2
DOIs
Publication statusPublished - 1 Jan 1988

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ASJC Scopus subject areas

  • Pulmonary and Respiratory Medicine

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