Alpha-1-antitrypsin deficiency in a Southland family

After diagnosis of an alpha-1-antitrypsin deficiency in a patient with emphysema, three complete generations of his family were screened for the defect. Half of the 42 subjects had a defective phenotype (18 were MZ, two were ZZ, and one SZ). Of this group, five had other avoidable risk factors predisposing to emphysema, and a further 10 were children. The four oldest subjects had radiological evidence of emphysema. Patients at risk were advised to stop smoking and avoid occupational exposure to lung irritants.