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A 41-year-old woman with an 8–pack-year history of tobacco use presented for progressive cough and dyspnea of 4 years’ duration. Her cough was productive of yellow-green sputum and treated with antibiotics on multiple occasions, which provided some alleviation of her symptoms. She had no history of neonatal respiratory distress, nasal congestion, persistent urticaria, joint laxity, or illicit drug use. She denied a family history of liver cirrhosis, chronic obstructive pulmonary disease (COPD), or cystic fibrosis. Examination revealed scattered wheezes and rhonchi on auscultation. Pulmonary function testing demonstrated a severe obstruction with a forced expiratory volume at 1 second (FEV1) of 0.79 L (28% of predicted), forced vital capacity (FVC) of 1.64 L (47% of predicted), FEV1:FVC ratio of 48%, and a reduced diffusing capacity for carbon monoxide of 8.74 mL/min per mm Hg (23.75% of predicted), which was consistent with emphysema. Chest radiography followed by computed tomography (CT) of the chest showed lower lobe predominant emphysema and bronchiectasis (Figure).
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α1-Antitrypsin deficiency (AATD)
B. Assess serum α1-antitrypsin level and genotype
The key to the correct diagnosis in this case is the severe obstructive pattern on pulmonary function testing, CT of the chest demonstrating lower lobe predominant emphysema and bronchiectasis, and presentation during the fourth decade of life.
Bronchoscopy with bronchoalveolar lavage and transbronchial biopsy may be reasonable in pursuit of an infectious or ciliary dyskinesia etiology related to this patient’s bronchiectasis but is unlikely to provide a unifying diagnosis with her emphysema. Inhaled nasal nitric oxide and ciliary dyskinesia genetic testing can be used to evaluate for ciliary dyskinesia, but the absence of neonatal respiratory distress, year-round daily cough and nasal congestion beginning before age 6 months, and situs inversus makes this diagnosis unlikely. A diagnosis of cystic fibrosis is also unlikely, given the distribution and severity of this patient’s bronchiectasis and emphysema (predominantly upper lobes in cystic fibrosis vs lower lobes in AATD) without extrapulmonary manifestations or family history.
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Correction: This article was corrected on October 8, 2019, for an incorrect drug class in the text.
Corresponding Author: Ali Ataya, MD, Division of Pulmonary, Critical Care and Sleep Medicine, University of Florida, 1600 SW Archer Rd, M452, Gainesville, FL 32610 (AliAtaya@gmail.com).
Published Online: July 5, 2019. doi:10.1001/jama.2019.8606
Conflict of Interest Disclosures: None reported.
Additional Contributions: We thank the patient for providing permission to share her information.
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