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Porphyria cutanea tarda in Brazilian patients: association with hemochromatosis C282Y mutation and hepatitis C virus infection.
Am J Gastroenterol. 2000 Dec; 95(12):3516-21.AJ

Abstract

OBJECTIVE

Porphyria cutanea tarda (PCT) is commonly associated with iron overload and hepatitis C virus (HCV) infection. Association between hemochromatosis C282Y or H63D mutations and PCT has been observed, although not uniformly, and iron overload is also commonly found in chronic HCV hepatitis. The aim of the present study was to investigate the frequency of C282Y and H63D mutations and HCV infection in Brazilian patients with PCT and their relationship with iron overload.

METHODS

Twenty-three patients (19 men) aged 39.6 +/- 11.1 yr were studied. All had dermatological lesions of PCT and high levels of urinary uroporphyrin. HCV infection and iron overload were investigated. DNA samples were analyzed for the presence of HFE mutations.

RESULTS

The frequency of C282Y was significantly higher in PCT patients than in 278 healthy individuals (17.4% vs 4%, odds ratio = 5.1, 95% confidence interval 1.5-17.6, p = 0.02), whereas no difference was observed regarding the H63D mutation (30.4% vs 31%, odds ratio = 1, 95% confidence interval 0.4-2.4, p = 1). Biochemical tests in PCT patients showed iron overload with transferrin saturation = 47.3 +/- 20.7% and ferritin = 566.8 +/- 425 ng/ml. Fifteen of 23 (65.2%) patients had HCV infection and alcohol ingestion was observed in 17 of 23 (73.9%).

CONCLUSIONS

PCT patients exhibited evidence of iron overload, a high frequency of HCV, and an association with C282Y mutation. These data further support the notion that both acquired and inherited factors contribute to the occurrence of PCT, and indicate that screening for C282Y may be justified in PCT patients.

Authors+Show Affiliations

Department of Clinical Medicine, School of Medicine of Ribeirão Preto, University of São Paulo, Brazil.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

11151887

Citation

Martinelli, A L., et al. "Porphyria Cutanea Tarda in Brazilian Patients: Association With Hemochromatosis C282Y Mutation and Hepatitis C Virus Infection." The American Journal of Gastroenterology, vol. 95, no. 12, 2000, pp. 3516-21.
Martinelli AL, Zago MA, Roselino AM, et al. Porphyria cutanea tarda in Brazilian patients: association with hemochromatosis C282Y mutation and hepatitis C virus infection. Am J Gastroenterol. 2000;95(12):3516-21.
Martinelli, A. L., Zago, M. A., Roselino, A. M., Filho, A. B., Villanova, M. G., Secaf, M., Tavella, M. H., Ramalho, L. N., Zucoloto, S., & Franco, R. F. (2000). Porphyria cutanea tarda in Brazilian patients: association with hemochromatosis C282Y mutation and hepatitis C virus infection. The American Journal of Gastroenterology, 95(12), 3516-21.
Martinelli AL, et al. Porphyria Cutanea Tarda in Brazilian Patients: Association With Hemochromatosis C282Y Mutation and Hepatitis C Virus Infection. Am J Gastroenterol. 2000;95(12):3516-21. PubMed PMID: 11151887.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Porphyria cutanea tarda in Brazilian patients: association with hemochromatosis C282Y mutation and hepatitis C virus infection. AU - Martinelli,A L, AU - Zago,M A, AU - Roselino,A M, AU - Filho,A B, AU - Villanova,M G, AU - Secaf,M, AU - Tavella,M H, AU - Ramalho,L N, AU - Zucoloto,S, AU - Franco,R F, PY - 2001/1/11/pubmed PY - 2001/2/28/medline PY - 2001/1/11/entrez SP - 3516 EP - 21 JF - The American journal of gastroenterology JO - Am J Gastroenterol VL - 95 IS - 12 N2 - OBJECTIVE: Porphyria cutanea tarda (PCT) is commonly associated with iron overload and hepatitis C virus (HCV) infection. Association between hemochromatosis C282Y or H63D mutations and PCT has been observed, although not uniformly, and iron overload is also commonly found in chronic HCV hepatitis. The aim of the present study was to investigate the frequency of C282Y and H63D mutations and HCV infection in Brazilian patients with PCT and their relationship with iron overload. METHODS: Twenty-three patients (19 men) aged 39.6 +/- 11.1 yr were studied. All had dermatological lesions of PCT and high levels of urinary uroporphyrin. HCV infection and iron overload were investigated. DNA samples were analyzed for the presence of HFE mutations. RESULTS: The frequency of C282Y was significantly higher in PCT patients than in 278 healthy individuals (17.4% vs 4%, odds ratio = 5.1, 95% confidence interval 1.5-17.6, p = 0.02), whereas no difference was observed regarding the H63D mutation (30.4% vs 31%, odds ratio = 1, 95% confidence interval 0.4-2.4, p = 1). Biochemical tests in PCT patients showed iron overload with transferrin saturation = 47.3 +/- 20.7% and ferritin = 566.8 +/- 425 ng/ml. Fifteen of 23 (65.2%) patients had HCV infection and alcohol ingestion was observed in 17 of 23 (73.9%). CONCLUSIONS: PCT patients exhibited evidence of iron overload, a high frequency of HCV, and an association with C282Y mutation. These data further support the notion that both acquired and inherited factors contribute to the occurrence of PCT, and indicate that screening for C282Y may be justified in PCT patients. SN - 0002-9270 UR - https://www.unboundmedicine.com/medline/citation/11151887/Porphyria_cutanea_tarda_in_Brazilian_patients:_association_with_hemochromatosis_C282Y_mutation_and_hepatitis_C_virus_infection_ L2 - https://Insights.ovid.com/pubmed?pmid=11151887 DB - PRIME DP - Unbound Medicine ER -