Publication Type Academic Article
Authors McElvaney N, Stoller J, Buist A, Prakash U, Brantly M, Schluchter M, Crystal R
Journal Chest
Volume 111
Issue 2
Pagination 394-403
Date Published 02/01/1997
ISSN 0012-3692
Keywords Registries, alpha 1-Antitrypsin Deficiency
Abstract OBJECTIVE: alpha 1-Antitrypsin (alpha 1-AT) deficiency is a hereditary disorder characterized by a high risk for the development of emphysema at an early age. In 1988, the National Heart, Lung and Blood Institute, National Institutes of Health, initiated a registry of individuals with alpha 1-AT deficiency to help define the natural history and clinical course of this disorder. This article describes demographic and clinical characteristics of subjects enrolled in the Registry at baseline. DESIGN: Prospective longitudinal natural history study. SETTING: Thirty-seven clinical centers in the United States (36 centers) and Canada (one center). PATIENTS: There were 1,129 subjects 18 years of age or older with severe deficiency of alpha 1-AT, defined as having serum alpha 1-AT levels < or = 11 mumol/L confirmed by a Central Phenotyping Laboratory, or a ZZ or ZNull genotype identified by genomic DNA analysis. RESULTS: Most enrollees were symptomatic white subjects in their fourth to sixth decade, with a ZZ phenotype, a history of having smoked cigarettes, and pulmonary function tests demonstrating a pattern consistent with emphysema. Interestingly, only a small percentage were current smokers on enrollment, suggesting that this population is amenable to smoking cessation. A subgroup of individuals in the Registry with relatively normal lung function were younger, more likely to have never smoked and more likely to have come to medical attention owing to a family history of alpha 1-AT deficiency rather than symptomatic involvement. CONCLUSIONS: These results emphasize the need for increased awareness and early detection of alpha 1-AT deficiency. In this endeavor, dissemination of the information contained in the Registry to health-care professionals and the general population, along with initiation of appropriate preventative measures before significant lung damage has occurred, could have considerable benefits for individuals with this condition.
DOI 10.1378/chest.111.2.394
PubMed ID 9041988
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