Alpha1-antitrypsin deficiency with diffuse bronchiectasis and cirrhosis of the liver

The medical literature has emphasized repeatedly the association of alpha1-antitrypsin deficiency with panacinar emphysema and cirrhosis of the liver. Previous reports have linked bronchiectasis with alpha1-antitrypsin deficiency. The present case confirms this association and adds the presence of an hepatic abnormality characteristics of alpha1-antitrypsin deficiency to complete the syndrome. The patient's phenotype was found to be MDuarteZ. It has been suggested that patients with diffuse bronchiectasis should be screened for alpha1-antitrypsin deficiency. We would add that a complete assessment of hepatic function, including liver biopsy, should be carried out in those individuals with reduced levels of alpha1-antitrypsin.