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.
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.
Authors: J Genuneit; G Weinmayr; K Radon; H Dressel; D Windstetter; P Rzehak; C Vogelberg; W Leupold; D Nowak; E von Mutius; S K Weiland Journal: Thorax Date: 2006-03-14 Impact factor: 9.139
Authors: Charlie Strange; Robert M Senior; Frank Sciurba; Scott O'Neal; Alison Morris; Stephen R Wisniewski; Russell Bowler; Harry S Hochheiser; Michael J Becich; Yingze Zhang; Joseph K Leader; Barbara A Methé; Naftali Kaminski; Robert A Sandhaus Journal: Ann Am Thorac Soc Date: 2015-10
Authors: Tsuneo Yamashiro; Shin Matsuoka; Raúl San José Estépar; Alejandro Diaz; John D Newell; Robert A Sandhaus; Patricia J Mergo; Mark L Brantly; Sadayuki Murayama; John J Reilly; Hiroto Hatabu; Edwin K Silverman; George R Washko Journal: COPD Date: 2009-12 Impact factor: 2.409