Baseline characteristics of enrollees in the National Heart, Lung and Blood Institute Registry of alpha 1-antitrypsin deficiency. Alpha 1-Antitrypsin Deficiency Registry Study Group.
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.


METHODS
Prospective longitudinal natural history study.


METHODS
Thirty-seven clinical centers in the United States (36 centers) and Canada (one center).


METHODS
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.
McElvaney
N G
NG
Pulmonary-Critical Care Medicine Branch, National Heart, Lung and Blood Institute, National Institutes of Health, Bethesda, Md, USA.
Stoller
J K
JK
Buist
A S
AS
Prakash
U B
UB
Brantly
M L
ML
Schluchter
M D
MD
Crystal
R D
RD
D000328:Adult; D001993:Bronchodilator Agents / Q000627:therapeutic use; D005260:Female; D005541:Forced Expiratory Volume; D006801:Humans; D016015:Logistic Models; D008297:Male; D009316:National Institutes of Health (U.S.); D010641:Phenotype; D011446:Prospective Studies; D012042:Registries; D012129:Respiratory Function Tests; D014481:United States; D019896:alpha 1-Antitrypsin Deficiency
D001993:Bronchodilator Agents