Porphyria cutanea tarda, hepatitis C, uroporphyrinogen decarboxylase and mutations of HFE gene. A case-control study.
BACKGROUND
Hemochromatosis gene (HFE) mutations and the hepatitis C virus (HCV) are known risk factors for porphyria cutanea tarda (PCT), but interactions with erythrocytic uroporphyrinogen decarboxylase (UROD) have seldom been addressed.


OBJECTIVE
In order to examine the links between these factors, we conducted a multicentre prospective case-control study.


METHODS
PCT patients with (n = 32) or without HCV (n = 28) were matched to HCV+ (n = 32) and HCV- controls (n = 28). HFE mutations (C282Y and H63D) were analyzed by PCR.


RESULTS
PCT+/HCV+ patients were younger than PCT+/HCV- patients (46.9 vs. 58.2 years, p < 0.001). UROD values were not significantly different in HCV+ and HCV- patients. Both C282Y and H63D were more frequent in PCT+ patients than in controls, but there was no difference in HFE genotype according to HCV seropositivity. Mean UROD was lower in case of HFE mutations in both PCT patients and controls.


CONCLUSIONS
In French patients, HCV infection is probably the major causal factor of PCT. It is not linked with HFE mutations, although they are significantly associated with PCT. A low erythrocytic UROD might be a predisposing factor. The UROD value was lower in patients with HFE mutations, suggesting a possible interaction between HFE genotype and UROD levels.
Cribier
Bernard
B
Clinique Dermatologique, Université Louis Pasteur, Faculté de Médecine, Hôpitaux Universitaires de Strasbourg, Strasbourg, France. bernard.cribier@chru-strasbourg.fr
Chiaverini
Christine
C
Dali-Youcef
Nassim
N
Schmitt
Michèle
M
Grima
Michèle
M
Hirth
Christine
C
Lacour
Jean-Philippe
JP
Chosidow
Olivier
O
D000328:Adult; D000368:Aged; D015415:Biomarkers / Q000097:blood; D016022:Case-Control Studies; D005260:Female; D005602:France; D005838:Genotype; D000071020:Hemochromatosis Protein; D006526:Hepatitis C / Q000150:complications / Q000201:enzymology / Q000235:genetics*; D015395:Histocompatibility Antigens Class I / Q000097:blood / Q000235:genetics*; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000097:blood / Q000235:genetics*; D008875:Middle Aged; D009154:Mutation; D017119:Porphyria Cutanea Tarda / Q000150:complications / Q000201:enzymology / Q000235:genetics*; D011446:Prospective Studies; D012307:Risk Factors; D014575:Uroporphyrinogen Decarboxylase / Q000097:blood*
D015415:Biomarkers; C103673:HFE protein, human; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins; D014575:Uroporphyrinogen Decarboxylase