BACKGROUND: Hitherto studies on the ethiopathogenesis of porphyria cutanea tarda 
(PCT) show that the major pathogenic factor is iron ion, which acts via 
inhibition of the uroporphyrinogen decarboxylase. New speculations have appeared 
on the possible relation of this role of iron and the occurrence of mutation of 
the recently discovered gene of the hereditary hemochromatosis HFE, which may 
cause the iron overloading of the organism. Our paper describes prevalence of 
the C282Y gene mutation (HFE) together with the clinical and laboratory record 
in PCT patients.
METHODS AND RESULTS: PCT was diagnosed mostly on the basis of clinical finding 
of actinic-traumatic vesicular dermatitis and the typical laboratory record of 
elevated higher-carboxylic porphyrines in urine and stool. Other laboratory 
methods tested the liver functions, plasma iron level and its binding capacity, 
ferritine level. All patient underwent routine haematological testing. Presence 
of antibodies against hepatitis C was also assayed (Elisa test 2nd generation, 
Sanofi Pasteur). In patients with prominent laboratory alterations showing 
possibility of the hepatic structural lesion, histology from the liver punctate 
was done. Frequency data of the C282Y gene mutation (HFE) in PCT patients was 
estimated on the basis of the genetic testing using PCR reaction of our own 
system. Group of PCT patients had 69 persons (63 patients with the sporadic form 
and 6 patients with familiar form of the disease). Hereditary haemochromatosis 
C282Y gene mutation (HH) was found in 15 patients, three of them were 
homozygotes and twelve heterozygotes (three heterozygotes had the familiar form 
of the disease). Nobody in this group was positive in the HIV antibody testing. 
In all porphyria patients with the presence of mutated gene who underwent liver 
biopsy, siderosis of different degrees was identified. In three patients neither 
the phenotypic observation nor the laboratory testing have shown 
haemochromatosis. Prevalence of C282Y gene mutation HFE in patients with 
porphyria cutanea tarda was studied. Such mutation was found in 15 persons (12 
heterozygotes and 3 homozygotes) from the group of 69 tested patients (21.7%). 
Such frequency is significantly higher than in the 
control--nonporphyric--persons (10%). Patients were without clinical symptoms. 
Laboratory haematological changes, typical for HH, manifested in some of them 
only (elevated level of ferritine was found in 10 from 15 porphyria patients, 
elevated sideremia in one of them). Red blood cell counts were in both homo- and 
heterozygotes normal. Concurrence of the two porphyrinogenic factors--presence 
of gene mutation HFE and hepatitis C infection--was not proved. Antibodies 
against hepatitis C virus were not identified in any of the patients. Siderosis 
was found to be only a symptomatic sign, which was pronounced in different 
degree in all 9 porphyria patients with C282Y gene mutation who underwent liver 
biopsy.
CONCLUSIONS: Frequency of C282Y gene mutation in our patients with porphyria 
cutanea tarda appears similar to that in other Middle European countries. It 
differs significantly from the frequency found in South European and North 
European countries (British).