Baseline characteristics of enrollees in the National Heart, Lung and Blood Institute registry of α1-antitrypsin deficiency

Noel G. McElvaney, James K. Stoller, A (Sonia) Buist, Udaya B S Prakash, Mark L. Brantly, Mark D. Schluchter, Ronald D. Crystal

Research output: Contribution to journalArticle

156 Citations (Scopus)

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 languageEnglish (US)
Pages (from-to)394-403
Number of pages10
JournalChest
Volume111
Issue number2
StatePublished - 1997

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National Heart, Lung, and Blood Institute (U.S.)
Registries
Emphysema
Natural History
Lung
Information Dissemination
Respiratory Function Tests
National Institutes of Health (U.S.)
Smoking Cessation
Tobacco Products
Population
Canada
Genotype
Demography
Delivery of Health Care
Phenotype
DNA
Serum

Keywords

  • α-antitrypsin
  • augmentation therapy
  • COPD
  • emphysema
  • registries

ASJC Scopus subject areas

  • Pulmonary and Respiratory Medicine

Cite this

McElvaney, N. G., Stoller, J. K., Buist, A. S., Prakash, U. B. S., Brantly, M. L., Schluchter, M. D., & Crystal, R. D. (1997). Baseline characteristics of enrollees in the National Heart, Lung and Blood Institute registry of α1-antitrypsin deficiency. Chest, 111(2), 394-403.

Baseline characteristics of enrollees in the National Heart, Lung and Blood Institute registry of α1-antitrypsin deficiency. / McElvaney, Noel G.; Stoller, James K.; Buist, A (Sonia); Prakash, Udaya B S; Brantly, Mark L.; Schluchter, Mark D.; Crystal, Ronald D.

In: Chest, Vol. 111, No. 2, 1997, p. 394-403.

Research output: Contribution to journalArticle

McElvaney, NG, Stoller, JK, Buist, AS, Prakash, UBS, Brantly, ML, Schluchter, MD & Crystal, RD 1997, 'Baseline characteristics of enrollees in the National Heart, Lung and Blood Institute registry of α1-antitrypsin deficiency', Chest, vol. 111, no. 2, pp. 394-403.
McElvaney NG, Stoller JK, Buist AS, Prakash UBS, Brantly ML, Schluchter MD et al. Baseline characteristics of enrollees in the National Heart, Lung and Blood Institute registry of α1-antitrypsin deficiency. Chest. 1997;111(2):394-403.
McElvaney, Noel G. ; Stoller, James K. ; Buist, A (Sonia) ; Prakash, Udaya B S ; Brantly, Mark L. ; Schluchter, Mark D. ; Crystal, Ronald D. / Baseline characteristics of enrollees in the National Heart, Lung and Blood Institute registry of α1-antitrypsin deficiency. In: Chest. 1997 ; Vol. 111, No. 2. pp. 394-403.
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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.",
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AU - Prakash, Udaya B S

AU - Brantly, Mark L.

AU - Schluchter, Mark D.

AU - Crystal, Ronald D.

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