Fast Five Quiz: Presentation and Diagnosis of Alpha-1 Antitrypsin Deficiency

Dora E. Izaguirre Anariba, MD


November 23, 2021

Figure 1. Color-enhanced radiograph showing emphysema.

Patients with AATD are predisposed to lung disease. The most common pulmonary complication in patients with AATD is emphysema, which usually manifests earlier in life than non–AATD-related emphysema. AATD-related lung disease does not typically manifest until individuals are at least in their 30s, when respiratory symptoms, such as dyspnea, cough, and wheezing, may begin. However, these symptoms are nonspecific and are not pathognomonic of AATD, which contributes to the underdiagnosis of AATD.

Learn more about the clinical presentation of AATD.


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