Lack of association between porphyria cutanea tarda and alpha 1-antitrypsin deficiency.
OBJECTIVE
To determine whether alpha 1-antitrypsin deficiency is involved in the pathogenesis of chronic liver disease in patients with porphyria cutanea tarda and in their recently described high prevalence of hepatitis C virus infection.


METHODS
Consecutive patients diagnosed as having porphyria cutanea tarda and chronic liver disease.


METHODS
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.


RESULTS
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 with porphyria cutanea tarda with normal or altered alpha 1-antitrypsin phenotype, including age of presentation of the disease, prevalence of hepatitis C virus infection, liver histology, prevalence of iron overload and hepatocellular carcinoma occurrence, did not differ significantly.


CONCLUSIONS
alpha 1-antitrypsin does not seem to play a role in the pathogenesis of chronic liver disease and hepatitis C virus infection in patients with porphyria cutanea tarda. Patients in whom the two defects coexist do not have a more severe disease.
Fargion
S
S
Istituto di Medicina Interna e Fisiopatologia Medica, Università di Milano, Italia.
Sergi
C
C
Bissoli
F
F
Fracanzani
A L
AL
Suigo
E
E
Carazzone
A
A
Roberto
C
C
Cappellini
M D
MD
Fiorelli
G
G
D000328:Adult; D000368:Aged; D005260:Female; D006526:Hepatitis C / Q000453:epidemiology; D006801:Humans; D019190:Iron Overload / Q000453:epidemiology; D008099:Liver / Q000473:pathology; D008111:Liver Function Tests; D008297:Male; D008875:Middle Aged; D010641:Phenotype; D017119:Porphyria Cutanea Tarda / Q000453:epidemiology / Q000209:etiology* / Q000235:genetics; D015995:Prevalence; D019896:alpha 1-Antitrypsin Deficiency