Abstract
Objective: α1-Antitrypsin (α1-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 α1-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 α1- AT, defined as having serum α1-AT levels ≤11 μmol/L confirmed by a Central Phenotyping Laboratory, or a ZZ 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 α1-AT deficiency rather than symptomatic involvement. Conclusions: These results emphasize the need for increased awareness and early detection of α1-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.
Original language | English (US) |
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Pages (from-to) | 394-403 |
Number of pages | 10 |
Journal | CHEST |
Volume | 111 |
Issue number | 2 |
DOIs | |
State | Published - 1997 |
Keywords
- COPD
- augmentation therapy
- emphysema
- registries
- α-antitrypsin
ASJC Scopus subject areas
- Pulmonary and Respiratory Medicine
- Critical Care and Intensive Care Medicine
- Cardiology and Cardiovascular Medicine