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JAMA Diagnostic Test Interpretation
May 15, 2018

Serum α1-Antitrypsin Concentration in the Diagnosis of α1-Antitrypsin Deficiency

Author Affiliations
  • 1The Pulmonary Center, Boston University School of Medicine, Division of Pulmonary, Allergy, Sleep, and Critical Care Medicine, Boston Medical Center, Boston, Massachusetts
JAMA. 2018;319(19):2034-2035. doi:10.1001/jama.2018.3888

A 64-year-old man who was a nonsmoker with a history of asthma was referred to pulmonary clinic with a 25-year history of dyspnea on exertion and multiple episodes of pneumonia. He reported that his father and paternal uncle had early-onset lung disease. An abdominal computed tomographic scan (Figure) performed for abdominal pain and weight loss revealed emphysema in the lung bases. Measurement of the patient’s serum α1-antitrypsin (AAT) showed a concentration of 14 mg/dL (reference range, 102-254 mg/dL [to convert to μM, multiply by 0.184]).