Alpha 1-antitrypsin deficiency physical examination

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Mazia Fatima, MBBS [2]

Overview

Physical examination of patients with AATD is usually remarkable for signs that are characteristic of increased respiratory work, airflow obstruction and hyperinflation that varies according to the severity of emphysema. Patients with mild emphysema usually have no abnormal findings on physical examination. Patient may appear normal on physical examination. Those with severe emphysema develop tachypnea and pursed-lip breathing. Other findings on physical examination include pulsus paradoxus, scalene muscle retraction, intercostal muscle retraction, wheezing, hepatomegaly, hyperinflation results in barrel chest, increased percussion note, decreased breath sound intensity, distant heart sounds.

Physical examination of patients with AATD is usually remarkable for signs characteristic of increased respiratory work, airflow obstruction and hyperinflation that varies according to the severity of emphysema.^[1]^[2]

Patients with mild emphysema usually have no abnormal findings on physical examination.

↑ Cox DW, Levison H (1988). “Emphysema of early onset associated with a complete deficiency of alpha-1-antitrypsin (null homozygotes)”. Am. Rev. Respir. Dis. 137 (2): 371–5. doi:10.1164/ajrccm/137.2.371. PMID 3257661.
↑ Turino GM, Barker AF, Brantly ML, Cohen AB, Connelly RP, Crystal RG, Eden E, Schluchter MD, Stoller JK (1996). “Clinical features of individuals with PI*SZ phenotype of alpha 1-antitrypsin deficiency. alpha 1-Antitrypsin Deficiency Registry Study Group”. Am. J. Respir. Crit. Care Med. 154 (6 Pt 1): 1718–25. doi:10.1164/ajrccm.154.6.8970361. PMID 8970361.