What are physical exam findings in alpha1-antitrypsin deficiency (AATD)?

Updated: Sep 11, 2020
  • Author: Dora E Izaguirre Anariba, MD, MPH; Chief Editor: John J Oppenheimer, MD  more...
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Answer

No single physical sign confirms a diagnosis of alpha1-antitrypsin deficiency (AATD) emphysema. Signs characteristic of increased respiratory work, airflow obstruction, and hyperinflation eventually develop but are dependent on the severity of emphysema at the time of diagnosis.

Increased respiratory work is evident as tachypnea, scalene and intercostal muscle retraction, and tripod position.

Airflow obstruction manifests as pursed-lip breathing, wheezing, and pulsus paradoxus.

Hyperinflation results in barrel chest, increased percussion note, decreased breath sound intensity (see breath sound assessment video, below), and distant heart sounds.

Breath sound assessment. Video courtesy of Therese Canares, MD, and Jonathan Valente, MD, Rhode Island Hospital, Brown University.

Patients with mild emphysema generally have no abnormal findings on physical examination. Even moderate disease may be evident only when a complicating acute infection occurs. Most of the signs generally considered a part of emphysema (from any cause) are signs of moderate-to-severe disease. Mild-to-moderate disease is easily missed if the physician relies solely on physical findings.

In those with unexplained liver disease with or without respiratory symptoms should be evaluated for AATD. Assessment for signs for stigmata of chronic liver disease, and panniculitis must be performed. Hepatomegaly can be seen, but is not specific for AATD.


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