Pulmonary emphysema and alpha 1-antitrypsin deficiency.
Of 72 patients with radiological evidence of pulmonary emphysema, emphysema occurred either alone or in association with bronchitis in 61, and 8 of these (13%) were found to have alpha(1)-antitrypsin deficiency. The main features of this condition are: exertional dyspnoea of relatively early onset (generally between 30 and 45 years of age), severely impaired FEV(1) and T(L)CO, and radiological emphysema predominantly affecting the lower zones of the lungs. It is probable that any patient with all the above abnormalities has alpha(1)-antitrypsin deficiency. There is evidence to suggest that cigarette smoking may hasten the onset of this type of emphysema.
D000328:Adult; D001991:Bronchitis / Q000150:complications; D004417:Dyspnea / Q000209:etiology; D004586:Electrophoresis; D005260:Female; D006579:Heterozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D010641:Phenotype; D005082:Physical Exertion; D011656:Pulmonary Emphysema / Q000150:complications / Q000000981:diagnostic imaging / Q000188:drug therapy / Q000201:enzymology* / Q000235:genetics; D011859:Radiography; D012907:Smoking / Q000150:complications; D013147:Spirometry; D014361:Trypsin Inhibitors / Q000097:blood*
D014361:Trypsin Inhibitors