Profil clinique et fonctionnel pulmonaire d’homozygotes (PiZ) déficitaires en alpha₁ antitrypsine

Abstract

A group of 6 males with severe α₁-antitrypsin deficiency, underwent clinical and pulmonary function evaluation. Findings were compared to those in a group of males with different degrees of airflow obstruction, comparable ages and tobacco consumption, but with normal serum levels of α₁-antitrypsin. The deficient group was characterized by: (1) a relatively early appearance of symptoms; (2) disturbed lung scans, mostly in the basal zones; (3) radiological evidence, in most cases, of pulmonary emphysema with, in particular, bullae in the lower lung zones; (4) hypoxemia without hypercapnia and a decreased TCO/ VA, and (5) a more or less severe reduction of maximal expiratory flows largely, but not exclusively due to a decrease in lung elastic recoil. Clinical and functional parameters did not permit a clear distinction between the deficient and non-deficient groups.

Mechanisms of chronic airway obstruction in smokers

“…Indeed, in an earlier study we found that among six males with severe deficiency (homozygous Pi-Z phenotype) only fourFall of whom were ex-smokers seeking help because of respiratory complaintsFhad severe functional impairment. 16 The remaining two, who were first screened at a centre for preventive medicine, had little or no symptoms and remarkably well preserved mechanical function despite active smoking and similar a1-antitrypsin blood levels. As a whole, this highly deficient group was clinically and functionally indistinguishable from a non-deficient group of similar age and tobacco consumption.…”