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BACKGROUND
In an early study of highly symptomatic patients with PI*Z alpha-1 antitrypsin deficiency (AAT), tobacco smoking was identified as a risk factor by comparing the age of symptom onset in smokers and nonsmokers. Age of symptom onset has not been well studied in relationship to other
Alpha-1-antitrypsin deficiency is an autosomal hereditary disorder and the large majority of individuals with severe deficiency are protease inhibitor type ZZ. The disease occurs predominantly in white persons of European origin and its frequency in Europe and North America is comparable to that of
BACKGROUND
pi alpha 1-Antitrypsin deficiency is a genetically determined condition resulting in predisposition to certain inflammatory diseases due to a protease: antiprotease imbalance that is exacerbated by tobacco smoking. Limited evidence suggests that there may be a significant enrichment of
Chronic obstructive pulmonary disease (COPD) is currently the ninth leading cause of death in France and is predicted to become the third leading cause of worldwide morbidity and mortality by 2020. Risk factors for COPD include exposure to tobacco, dusts and chemicals, asthma and alpha-1 antitrypsin
Alpha-1-antitrypsin deficiency (AATD) is the main genetic factor related to the development of emphysema. This protein has numerous variants, some of which are clinically relevant because their anomalous conformation implies that they fail to reach the target organs as they are polymerized in the
BACKGROUND
The frequency, characteristics and impact of acute exacerbations in patients with alpha-1 antitrypsin deficiency (AATD) and COPD who are on intravenous alpha-1 antitrypsin augmentation therapy have not been described.
METHODS
922 subjects with AATD and COPD on augmentation therapy (mean
The prevalence of chronic obstructive pulmonary disease (COPD) in Spain is 10.2%. Although tobacco is the main aetiological factor, biomass smoke exposure and alpha-1 antitrypsin deficiency (AATD) have also been related to its development. AATD is a genetic condition which could be causing 2-3% of
BACKGROUND
Alpha-1 antitrypsin deficiency is associated with the occurrence of pulmonary emphysema. The aim of this study is to describe the characteristics of patients with alpha-1 antitrypsin deficiency associated pulmonary emphysema.
METHODS
We describe a prospective cohort study including adult
The serious form of alpha-1-antitrypsin deficiency (ATD) Pi ZZ strongly predisposes the individual for pulmonary emphysema and premature death in adulthood, especially if exposed to tobacco smoking. General screening of all new-born children was conducted in Sweden during 1972-1974, the major
BACKGROUND
Alpha-1 antitrypsin deficiency is a hereditary disease defined at the biological level by a serum alpha-1 antitrypsin level below 11μM/L. The null variants are characterized by undetectable circulating alpha-1 antitrypsin levels. Suspicion of a null variant requires the use of appropriate
BACKGROUND
Alpha-1-antitrypsin deficiency (AATD) is a rare genetic disorder that is associated with low levels of circulating alpha-1-antitrypsin in serum. In comparison to the genotype PiZZ, PiSZ usually leads to lower risk of emphysema, better lung function and better survival. The aim of this
Alpha-1 Antitrypsin Deficiency is a common hereditary disorder that results from abnormal Alpha Antitrypsin production. This predisposes patients to early onset emphysema especially when exposed to tobacco smoke. Early recognition is important. Smoking cessation and augmentation therapy are
Alpha-1-antitrypsin deficiency (AATD) is a genetic disorder that is associated with a higher risk of chronic obstructive pulmonary disease (COPD) and emphysema. The annual declines in lung function (FEV1) and transfer factor of the lung for carbon monoxide (TLCO) predict all-cause mortality.
We
Introduction Chronic obstructive pulmonary disease (COPD) is most commonly caused by smoking tobacco or cigarettes. However, alpha-1 antitrypsin deficiency (AATD) is the only genetic disorder known to cause COPD and these patients often present with emphysema earlier in life and with more severe
The French registry of patients with alpha-1 antitrypsin deficiency (AATD)-associated emphysema was launched in 2006. Here, we aimed to report on the baseline characteristics of these patients, their health-related quality of life (HRQoL) and factors associated with HRQoL. Another goal was to survey