montelukast and alpha-1-Antitrypsin-Deficiency

In a study comparing low-dose theophylline to montelukast in poorly controlled asthmatics, 285 subjects consented to be screened for alpha-1 antitrypsin deficiency. Of the 284 for which complete data was available, 10.5% carried a deficiency gene and 2.4% were mildly deficient with an alpha-1 antitrypsin serum level of less than 20 mu M. In the non-African-American cohort, an abnormal phenotype occurred in 12% and 2.9% were mildly deficient. Baseline pulmonary function and asthma scores were not significantly different between those with normal and abnormal AAT phenotype. However those with the deficiency tended to show a greater bronchodilator response.

Topics: Acetates; Adolescent; Adult; Aged; alpha 1-Antitrypsin Deficiency; Asthma; Bronchodilator Agents; Cohort Studies; Cyclopropanes; Female; Forced Expiratory Volume; Humans; Male; Middle Aged; Phenotype; Prevalence; Quinolines; Statistics, Nonparametric; Sulfides; Theophylline; United States

Alpha-1 Antitrypsin Deficiency (A1AD) is a hereditary condition characterized by low levels of circulating alpha-antitrypsin (AAT) in plasma. It is the best understood genetic risk factor for the development of chronic obstructive pulmonary disease (COPD). The diagnosis of A1AD is under-recognized. While there is a significant heterogeneity in disease presentation in relation to the severity of symptoms and prognosis, it is not uncommon for young individuals, including pregnant women to already have moderate to advanced lung disease at the time of diagnosis. Reductions in AAT levels may have unique implications for a gravid patient beyond that of lung disease. Care of the pregnant A1AD patient with chronic lung disease follows the principles of care for the management of airways disease in general with control of symptoms and reduction in exacerbation risk the main tenets of treatment. The effect of A1AD and augmentation in pregnancy has not been studied and thus care is reliant on expert opinion and clinical experience. Providers caring for pregnant patients with A1AD should consider referral to health care systems and providers with specific expertise in A1AD. Ultimately the decision is left to the individual patient and their physician to weigh the risk benefit of cessation or continuation of therapies. In this review, we present the perinatal course of a woman with A1AD and review the available literature pertaining to AAT and pregnancy and discuss the clinical implications.

Topics: Acetates; Adult; alpha 1-Antitrypsin; alpha 1-Antitrypsin Deficiency; Anti-Asthmatic Agents; Budesonide, Formoterol Fumarate Drug Combination; Cyclopropanes; Female; Forced Expiratory Volume; Humans; Panniculitis; Phenotype; Pregnancy; Pregnancy Complications; Pulmonary Diffusing Capacity; Pulmonary Emphysema; Quinolines; Spirometry; Sulfides; Trypsin Inhibitors