Advances in managing COPD related to α1 -antitrypsin deficiency: An under-recognized genetic disorder.

摘要: α1 -Antitrypsin deficiency (AATD) predisposes individuals to chronic obstructive pulmonary disease (COPD) and liver disease. Despite being commonly described as rare, AATD is under-recognized, with less than 10% of cases identified. The following a comprehensive review AATD, primarily for physicians who treat COPD or asthma, covering the genetics, epidemiology, clinical presentation, screening diagnosis, treatments AATD. For patients presenting and/or lung disease, diagnostic tests are only methods determine whether related Screening guidelines have been established by organizations such World Health Organization, European Respiratory Society, American Thoracic Society. High-risk groups, including COPD, nonresponsive bronchiectasis unknown etiology, unexplained should be tested Current treatment options include augmentation therapy purified AAT deficient levels significant Recent trial data suggest that tissue preserved therapy, different dosing schedules currently investigated. Effective management diseases also includes aggressive avoidance smoking biomass burning, vaccinations, antibiotics, exercise, good diet, medications, serial assessment.