Review

Alpha-1 antitrypsin deficiency: An underrecognized, treatable cause of COPD

James K. Stoller, MD, MS
Cleveland Clinic Journal of Medicine July 2016, 83 (7) 507-514; DOI: https://doi.org/10.3949/ccjm.83a.16031

Article Figures & Data

Figures

  • FIGURE 1
    FIGURE 1

    “Mousetrap-like” mechanism by which alpha-1 antitrypsin binds and inactivates neutrophil elastase.

  • FIGURE 2
    FIGURE 2

    Histologic study of a liver biopsy specimen from a patient with PI*ZZ alpha-1 antitrypsin deficiency. The eosinophilic inclusion bodies (arrow) are periodic acid-Schiff-positive, diastase-resistant globules that contain polymerized, unsecreted Z-type alpha-1 antitrypsin.

  • FIGURE 3
    FIGURE 3

    Computed tomographic scan through the apex (top image) and the base of the lungs (bottom image) in a patient with alpha-1 antitrypsin deficiency. Note that the emphysematous bullous changes are more pronounced at the bases than at the apices.

Tables

  • TABLE 1

    Indications for diagnostic testing for alpha-1 antitrypsin deficiency

    Diagnostic testing for alpha-1 antitrypsin deficiency should be performed in the following settings:

    • Symptomatic adults with emphysema, chronic obstructive pulmonary disease, or asthma with airflow obstruction that is incompletely reversible after aggressive treatment with bronchodilators. (Notably, in populations where the prevalence of alpha-1 antitrypsin deficiency is known to be much lower than the general North American and Northern European prevalence, a type B recommendation for diagnostic testing in this setting is offered, ie, genetic testing should be discussed and could reasonably be accepted or declined.)

    • Individuals with unexplained liver disease, including neonates, children, and adults, particularly the elderly.a

    • Asymptomatic individuals with persistent obstruction on pulmonary function tests with identifiable risk factors (eg, cigarette smoking, occupational exposure)

    • Adults with necrotizing panniculitis

    • ↵a Unexplained liver disease refers to demonstrated liver disease that is not deemed due to another identifiable cause, eg, viral hepatitis, hemochromatosis, Wilson disease.

    • Adapted from American Thoracic Society, European Respiratory Society. American Thoracic Society/ European Respiratory Society statement: standards for the diagnosis and management of individuals with alpha-1 antitrypsin deficiency. Am J Respir Crit Care Med 2003; 168:818–900.

Back to top

In this issue

Print
Download PDF
Article Alerts
Email Article
Citation Tools

Jump to section

Subjects