Emphysema, cirrhosis, and heart block in a young patient with partial alpha 1 antitrypsin deficiency (PiMZ phenotype).
Severe lung disease and liver disease are not recognised features of the PiMZ phenotype, which is associated with alpha 1 antitrypsin deficiency. A 31 year old woman with this phenotype was found to have emphysema and complete heart block and showed evidence of hepatic cirrhosis, although her three sisters, all of whom had the same phenotype, were clinically normal. This case supports the possibility of a causal relation between the PiMZ phenotype and chronic lung and liver disease, but an association between alpha 1 antitrypsin deficiency and complete heart block could not be proved in this patient.
D000328:Adult; D002908:Chronic Disease; D004646:Emphysema / Q000097:blood / Q000209:etiology*; D005260:Female; D006327:Heart Block / Q000097:blood / Q000209:etiology*; D006801:Humans; D008103:Liver Cirrhosis / Q000097:blood / Q000209:etiology*; D010641:Phenotype; D019896:alpha 1-Antitrypsin Deficiency