title: Lack of association between porphyria cutanea tarda and alpha 1-antitrypsin deficiency.
abstract: 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.
authors.affiliation: Istituto di Medicina Interna e Fisiopatologia Medica, Università di Milano, Italia.
authors.forename: S
authors.initials: S
authors.lastname: Fargion
authors.forename: C
authors.initials: C
authors.lastname: Sergi
authors.forename: F
authors.initials: F
authors.lastname: Bissoli
authors.forename: A L
authors.initials: AL
authors.lastname: Fracanzani
authors.forename: E
authors.initials: E
authors.lastname: Suigo
authors.forename: A
authors.initials: A
authors.lastname: Carazzone
authors.forename: C
authors.initials: C
authors.lastname: Roberto
authors.forename: M D
authors.initials: MD
authors.lastname: Cappellini
authors.forename: G
authors.initials: G
authors.lastname: Fiorelli
mesh_terms: 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