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Severe alpha1-anti-trypsin (AAT) deficiency implies a high risk of pulmonary emphysema development. The possible relationship between partial deficiencies of this enzyme and bronchial asthma remains controversial. The objective of this study was to ascertain the distribution of AAT phenotypes in a non-selected asthmatic patient population. Across-sectional study on a sample of 111 patients with asthma was carried out. Demographic and clinical variables were collected with serum IgE concentrations, plasma eosinophil number and serum AAT concentrations determined, together with the Pi phenotype. Asthma was mild in 36 (32.4%) patients, moderate in 45 (40.5%) and severe in 30 (27%). No differences were observed in eosinophil count or serum IgE or AAT concentrations among patients with different degrees of severity. Twenty-two (19.8%) asthmatics with deficient phenotypes for AAT were identified, distributed equally in all severity stages of the disease. No significant differences were found in clinical and functional characteristics, or in asthma morbidity between PiMM and PiMS patients or the heterozygote group (PiMS and PiMZ). Eosinophil count and IgE concentrations did not differ significantly between asthmatics with normal phenotype and heterozygotes. In conclusion, the distribution of AAT phenotypes in asthmatic patients did not differ from that found in the general population. Heterozygote phenotypes for the deficiency do not appear to confer greater severity or different clinical expression of asthma in adults.

In the present study, we analysed: 1) prevalence of TB infection and incidence of disease among family contacts of a cohort of patients with TB; 2) differential characteristics of families with microepidemics and families with ≤1 new case of TB; and 3) efficacy of chemoprophylaxis in this group of contacts.Three thousand and seventy one family contacts of 635 patients with TB were studied. The study consisted of tuberculin skin testing and chest radiography in all cases, and bacteriological studies when active disease was suspected. Contacts were classified as belonging to: families with microepidemics (FME) (those with ≥2 new cases of TB); families with one new case; and families with with no new cases. Chemoprophylaxis was prescribed in contacts following standard recommendations; all were followed up for 12-18 months. Rates of TB infection and disease among families, as well as the incidence of TB disease between those compliant and noncompliant with chemoprophylaxis were compared.Among the 3,071 contacts, 1,264 (41%) were infected and 176 (6%) had TB. Twenty two families with FME (3%) yielded 55 new cases of TB. The prevalence of infection (excluding the TB cases) was 80% in families with FME, 52% in families with one new case, and 41% in families with no new case (odds ratio (OR) 3.7; 95% confidence interval (95% CI) 2.1-6.5). Sputum smears were positive in 53% of cases in FME and 24% in non-FME families (OR 3.4; 95% CI 1.7-6.5). Bronchial sample cultures were positive in 84% of patients from FME families but in only 40% of those from non-FME families (OR 7.5; 95% CI 3.6-15.8).Chemoprophylaxis was prescribed in 356 contacts, of whom 296 complied and generated only one new case of TB, whilst there were 13 new cases among the 60 who did not comply (OR 81.6; 95% CI 26.7-248.7).This study showed the prevalence of infection and incidence of tuberculosis among family contacts of patients with newly diagnosed tuberculosis to be very high. A small number of families with microepidemics accounted for most new cases of tuberculosis, which were also more infectious. The extremely high risk of transmission in these families, together with the proven efficacy of chemoprophylaxis, justifies prescription of chemoprophylaxis to all their members, regardless of age.

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