[Heterozygotic alpha-1 antitrypsin deficiency. A case report]

The clinical, analytical (including phenotypical) and histologic (optical and ultrastructural) data of a 34-years-old male patient attended for evaluation of moderate hypertransaminasemia discovered following a company screening examination. The existence of an alpha-1-antitrypsin heterozygotic deficit (MZ) was detected with flattening of the alpha wave in the proteinogram and a decreased serum level of this glycoprotein. Morpho-pathologically no PAS positive globules were optically found on liver biopsy although dilatation of the rough RE was observed with deposition in the medium electrodensity material, the significance of which is discussed on the basis of the patient's phenotype. It is suggested that serum studies of alpha-1-antitrypsin should be included in the routine evaluation of chronic liver diseases.