S. Fargion et al., LACK OF ASSOCIATION BETWEEN PORPHYRIA-CUTANEA-TARDA AND ALPHA(1)-ANTITRYPSIN DEFICIENCY, European journal of gastroenterology & hepatology, 8(4), 1996, pp. 387-391
Objective: To determine whether alpha(1)-antitrypsin deficiency is inv
olved in the pathogenesis of chronic liver disease in patients with po
rphyria cutanea tarda and in their recently described high prevalence
of hepatitis C virus infection. Design: Consecutive patients diagnosed
as having porphyria cutanea tarda and chronic liver disease. Setting:
A northern Italian hospital. Methods: alpha(1)-antitrypsin phenotypes
were characterized by isoelectric focusing and the results confirmed
by DNA analysis in 63 Italian patients with porphyria cutanea tarda. R
esults: alpha(1)-antitrypsin phenotypes different from the normal one
were found in 13% of the patients. This prevalence did not differ from
that in control subjects (9%). Clinical characteristics of patients w
ith porphyria cutanea tarda with normal or altered alpha(1)-antitrypsi
n phenotype, including age of presentation of the disease, prevalence
of hepatitis C virus infection, liver histology, prevalence of iron ov
erload and hepatocellular carcinoma occurrence, did not differ signifi
cantly. Conclusion: alpha(1)-antitrypsin does not seem to play a role
in the pathogenesis of chronic liver disease and hepatitis C virus inf
ection in patients with porphyria cutanea tarda. Patients in whom the
two defects coexist do not have a more severe disease.