No relation was found between familial clustering and the nature of liver disease or the duration of antigenaemia in the index cases.Eight affected relatives were apparently healthy carriers of HBAG, one had cirrhosis, and three (in the same family) developed acute viral hepatitis.The absence of parenteral exposure in the HBA,-positive family contacts and the identity in antigenic determinants d or y with those of the index cases, suggest a non-parenteral spread of HBAg in families of patients with HBAg-associated liver diseases.
No relation was found between familial clustering and the nature of liver disease or the duration of antigenaemia in the index cases.Eight affected relatives were apparently healthy carriers of HBAG, one had cirrhosis, and three (in the same family) developed acute viral hepatitis.The absence of parenteral exposure in the HBA,-positive family contacts and the identity in antigenic determinants d or y with those of the index cases, suggest a non-parenteral spread of HBAg in families of patients with HBAg-associated liver diseases.
Routine determination of serum AAT level and phenotype and special staining for AAT in liver biopsies in all adults with liver disease appears unnecessary.
Liver biopsy early in the course of the disease was not helpful prognostically but was useful in assessment of the severity of liver disease and demonstration of alpha1AT storage, alpha1AT deficiency was found in 29% of our patients who presented with the neonatal hepatitis syndrome.
The association of certain forms of liver disease and a deficiency of alpha-1-antitrypsin is an observation which raises the possibility that other forms of liver disease ultimately will be found to have as their proximate cause a defined metabolic aberration, which may in turn be inherited.
The case is persistent cutaneous vasculitis in a 2-year-old child with alpha1-AT deficiency of the PiZZ type, heterozygosity for the Duarte variant of galactose-1-phosphate uridyl transferase, and neonatal liver disease.
Biopsies from 3 of 207 patients with liver disease and lacking the Z allele had globular inclusions seen with both PAS and immunoperoxidase techniques. alpha 1-AT globules in absence of the Z allele are most often found in elderly patients with severe disease and high plasma alpha 1-AT concentrations.
Our study indicates that a periodic assessment of liver function may be warranted for patients with alpha 1-antitrypsin deficiency who are over 40 years of age.
There was, however, no difference in the distribution of the HLA antigens in 54 patients with different degrees of alcoholic liver disease and an elevated carcinoembryonic antigen (CEA) value of greater than or equal to 5.0 micrograms/l compared with 61 alcoholics with different degrees of liver disease and a normal CEA value.
Using a monoclonal antibody against the Pi Z genetic variant of alpha 1-antitrypsin in an enzyme-linked immunosorbent assay, we have screened plasma samples from 857 consecutive patients with liver disease for the presence of Pi Z alpha 1-antitrypsin.
Thus in different liver diseases the reactivity of antibodies to monomeric G-actin and polymeric F-actin may differ, presumably because of specificity for different determinants of the actin molecule.
This case emphasizes the diagnostic importance of alpha 1-antitrypsin and illustrates the point that protease inhibitor phenotyping without family genotyping may be misleading in heterozygous patients with liver disease.