Normal Diffusing Capacity in Patients With PiZ α1-Antitrypsin Deficiency, Severe Airflow Obstruction, and Significant Radiographic Emphysema

Abstract

alpha(1)-Antitrypsin deficiency is usually suspected clinically in young adults with irreversible airflow obstruction that is out of proportion to their smoking history. Many patients with alpha(1)-antitrypsin deficiency receive an initial diagnosis of asthma or chronic bronchitis. Measurement of the diffusing capacity of the lung for carbon monoxide (DLCO) has been recommended as a way to help distinguish emphysema from asthma and chronic bronchitis. In this article, we describe four patients with severe alpha(1)-antitrypsin deficiency, each of whom had a repeatedly normal DLCO despite having a significant component of fixed airway obstruction and prominent panacinar emphysema on high-resolution CT scan (HRCT). Each patient also demonstrated significant bronchodilator responsiveness, and two patients received an initial diagnosis of asthma. Potential explanations for these findings are discussed. We report these findings to illustrate the limitations of DLCO in this setting. alpha(1)-Antitrypsin deficiency should be considered in patients with fixed airway obstruction that is out of proportion to their age and smoking history, regardless of their diffusing capacity and response to bronchodilators.