Lung Function and Health Status in Individuals with Severe Alpha-1-Antitrypsin Deficiency at the Age of 42.

Background: Severe hereditary alpha-1-antitrypsin deficiency (AATD) is a known risk factor for the early development of pulmonary emphysema and COPD, especially in smokers. By the Swedish national screening programme carried out from 1972 to 1974, a cohort of individuals with severe (PiZZ) AATD was identified and has been followed up regularly. The aim of this study was to investigate health status, quality of life and lung function in this cohort at the age of 42 years compared with an age-matched control group randomly selected from the population registry.

Chronic airflow limitation and its relation to respiratory symptoms among ever-smokers and never-smokers: a cross-sectional study.

Background: The diagnosis of chronic obstructive pulmonary disease is based on the presence of persistent respiratory symptoms and chronic airflow limitation (CAL). CAL is based on the ratio of forced expiratory volume in 1 s to forced vital capacity (FEV:FVC) after bronchodilation, and FEV:FVC less than the fifth percentile is often used as a cut-off for CAL. The aim was to investigate if increasing percentiles of FEV:FVC were associated with (cough with phlegm, dyspnoea or wheezing) in a general population sample of never-smokers and ever-smokers.

The association of body mass index, weight gain and central obesity with activity-related breathlessness: the Swedish Cardiopulmonary Bioimage Study.

Introduction: Breathlessness is common in the population, especially in women and associated with adverse health outcomes. Obesity (body mass index (BMI) >30 kg/m) is rapidly increasing globally and its impact on breathlessness is unclear.

Methods: This population-based study aimed primarily to evaluate the association of current BMI and self-reported change in BMI since age 20 with breathlessness (modified Research Council score ≥1) in the middle-aged population.

Survival in the Swedish cohort with alpha-1-antitrypsin deficiency, up to the age of 43-45 years.

Background: Alpha-1-antitrypsin deficiency (AATD) is a hereditary disorder. AATD is a known risk factor for the development of emphysema and liver disease. A cohort of severe (PiZZ) and moderate (PiSZ) AAT-deficient newborn infants was identified by the Swedish national neonatal AAT screening in 1972-1974 and has been followed up since birth.

Liver disease in adults with severe alpha-1-antitrypsin deficiency.

Background: The proportion of adults with liver disease due to severe alpha-1-antitrypsin deficiency (AATD), with PiZZ phenotype, is not clear. The markers of the AATD liver disease, how it progresses, and measures for its prevention have not been established. The aim of this study was to analyze the risk of liver disease in individuals with severe AAT deficiency (PiZZ).

Lung function and CT lung densitometry in 37- to 39-year-old individuals with alpha-1-antitrypsin deficiency.

Background: Alpha-1-antitrypsin (AAT) deficiency is a hereditary disorder that predisposes to emphysema. A cohort of severe (PiZZ) and moderate (PiSZ) AAT-deficient newborn infants was identified by the Swedish national neonatal AAT screening program in 1972-1974 and has been followed-up since birth. Our aim was to study whether the cohort has signs of emphysema in pulmonary function tests (PFTs) and computed tomography (CT) densitometry at 38 years of age in comparison with an age-matched control group, randomly selected from the population registry.

Acoustic radiation force impulse (ARFI) elastography in a cohort of alpha-1 antitrypsin-deficient individuals and healthy volunteers.

Background: Acoustic radiation force impulse (ARFI) elastography has been used to assess liver stiffness non-invasively. However, its usefulness in alpha-1 antitripsin-deficient (AATD) individuals is unknown.

Purpose: To assess if liver fibrosis is present in a cohort of AATD individuals using ARFI elastography.

Risk of cancer after lung transplantation for COPD.

Background: The risk of cancer is increased and affects survival after lung transplantation (LTx), but has not been well characterized in COPD. We aimed to evaluate the incidence and prognosis of cancer following LTx for COPD.

Methods: A prospective, population-based study of patients undergoing LTx for end-stage COPD at the two transplantation centers in Sweden between 1990-2013, with follow-up for incident cancer and death, using national registers.

Survival in individuals with severe alpha 1-antitrypsin deficiency (PiZZ) in comparison to a general population with known smoking habits.

Knowledge about the natural history of severe alpha 1-antitrypsin (AAT) deficiency (PiZZ) is limited. Our aim was to compare the survival of PiZZ individuals with randomly selected controls from the Swedish general population.The PiZZ subjects (n=1585) were selected from the Swedish National AATD Register.

Liver function in alpha-1-antitrypsin deficient individuals at 37 to 40 years of age.

Severe alpha-1-antitrypsin (AAT) deficiency (PiZZ) is a risk factor for liver disease, but the prevalence of liver cirrhosis and hepatocellular cancer in PiZZ adults is unknown. The risk of liver disease in adults with moderate AAT deficiency (PiSZ) is also unknown. A cohort of 127 PiZZ, 2 PiZnull, 54 PiSZ, and 1 PiSnull individuals were identified by the Swedish national neonatal AAT screening program between 1972 and 1974, when all 200,000 newborn infants in Sweden were screened for AAT deficiency.

Health status and lung function in the Swedish alpha 1-antitrypsin deficient cohort, identified by neonatal screening, at the age of 37-40 years.

Background: Severe alpha 1-antitrypsin (AAT) deficiency (genotype PiZZ) is a well-known risk factor for COPD. A cohort of PiZZ and PiSZ individuals was identified by the Swedish national neonatal AAT screening program in 1972-1974 and followed up regularly since birth. Our aim was to study the lung function, respiratory symptoms and health status at the age of 38 years in comparison with a random sample of control subjects selected from the population registry.

Burn injury during long-term oxygen therapy in Denmark and Sweden: the potential role of smoking.

Background: Long-term oxygen therapy (LTOT) increases life expectancy in patients with COPD and severe hypoxemia. Smoking is the main cause of burn injury during LTOT. Policy regarding smoking while on LTOT varies between countries.

Cause-specific mortality in individuals with severe alpha 1-antitrypsin deficiency in comparison with the general population in Sweden.

Background: Severe alpha 1-antitrypsin deficiency (PiZZ) predisposes to morbidity and mortality due to early-onset emphysema and liver disease. The risk of death from other causes, including cardiovascular disease and cancer, has not been well investigated. We aimed to analyze cause-specific mortality in PiZZ individuals compared with the general Swedish population.

The risk of burn injury during long-term oxygen therapy: a 17-year longitudinal national study in Sweden.

Background: Long-term oxygen therapy (LTOT) improves the survival time in hypoxemic chronic obstructive pulmonary disease. Despite warnings about potential dangers, a considerable number of patients continue to smoke while on LTOT. The incidence of burn injuries related to LTOT is unknown.

The Clinical Profile of Subjects Included in the Swedish National Register on Individuals with Severe Alpha 1-Antitrypsin deficiency.

The Swedish national register of severe alpha1-antitrypsin (AAT) deficiency was established in 1991. The main aims are to prospectively study the natural history of severe AAT deficiency, and to improve the knowledge of AAT deficiency. The inclusion criteria in the register are age ≥ 18 years, and the PiZ phenotype diagnosed by isoelectric focusing.

The Swedish α1-Antitrypsin Screening Study: Health Status and Lung and Liver Function at Age 34.

Rationale: All Swedish newborn infants were screened for α1-antitrypsin (AAT) deficiency between 1972 and 1974. The cohort of 127 individuals with severe AAT deficiency (PiZZ) and 54 with moderate AAT deficiency (PiSZ) has been followed up regularly.

Objectives: To compare smoking habits, quality of life, respiratory symptoms, and lung and liver function at the age of 34 years in this cohort and among 300 age-matched control subjects randomly selected from the Swedish population registry.

Survival benefit of lung transplantation for chronic obstructive pulmonary disease in Sweden.

Background: Lung transplantation (LTx) is a therapeutic option for patients with life-threatening chronic obstructive pulmonary disease (COPD) that is refractory to conventional therapies. The survival benefit of LTx for COPD is difficult to assess. The aim of this study was to evaluate the Swedish series of LTx performed to treat COPD and to identify differences in outcome between COPD related to severe alpha-1-antitrypsin deficiency (AATD) and COPD with normal alpha-1-antitrypsin (AAT) levels.

Lung Function and CT Densitometry in Subjects with alpha-1-Antitrypsin Deficiency and Healthy Controls at 35 Years of Age.

Alpha-1-antitrypsin (AAT) deficiency is a genetic risk factor for pulmonary emphysema. In 1972-74 all 200,000 Swedish new-born infants were screened for AAT deficiency. The aim of the present study was to investigate whether the PiZZ and PiSZ individuals identified by this screening have signs of emphysema and the role of smoking in this, compared with a random sample of control subjects at 35 years of age.

Survival benefit of lung transplantation in individuals with severe α1-anti-trypsin deficiency (PiZZ) and emphysema.

Background: The objective of lung transplantation (LTx) is to prolong life, but the survival benefit for patients with severe α(1)-anti-trypsin deficiency (PiZZ) and emphysema is still unclear. The aim of this study was to assess whether PiZZ patients who have undergone lung transplantation (the lung transplant group, TxG) do better than patients who have continued on the usual medical therapy (the non-transplant group, NTxG).

Methods: Between 1990, when the first patient received a lung transplant in Sweden, until June 2010, a total of 83 PiZZ patients with severe emphysema underwent transplantation.

Survival in severe alpha-1-antitrypsin deficiency (PiZZ).

Background: Previous studies of the natural history of alpha-1-antitrypsin (AAT) deficiency are mostly based on highly selected patients. The aim of this study was to analyse the mortality of PiZZ individuals.

Methods: Data from 1339 adult PiZZ individuals from the Swedish National AAT Deficiency Registry, followed from 1991 to 2008, were analysed.