HCV infection in porphyria cutanea tarda

Murphy, Andrew W.; Dooley, S.; Hillary, Irene B.; Murphy, Gillian

doi:10.1016/0140-6736(93)90670-c

Cited by 78 publications

(30 citation statements)

References 2 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…However, recent studies in Spain, France, and Italy [4][5][6] indicated that a substantial majority (71%-91%; average, 77%) of subjects with PCT had evidence of infection with the hepatitis C virus (HCV). In contrast, the prevalence of HCV infection was low (0%-18%) in PCT patients from Northern or Central Europe, 3,[7][8][9][10] Australia, 11 or New Zealand. 12 Until now, the relationship of HCV to PCT has been studied in few North American patients.…”

Section: And Elder 3 )mentioning

confidence: 99%

Porphyria cutanea tarda, hepatitis C, and HFE gene mutations in north america†

et al. 1998

View full text Add to dashboard Cite

In some, but not all countries, porphyria cutanea tarda (PCT) has been associated with chronic infection with the hepatitis C virus (HCV). Recently, PCT has also been associated with mutations in the HFE gene that are associated with HLA-linked hereditary hemochromatosis. Until now, few studies of these associations have been reported from North America. The aims of this study were: 1) to assess the prevalence of HCV infection and HFE mutations in North American patients with PCT; 2) to compare demographic and laboratory features between those who are HCV-positive and HCV-negative; and 3) to study urinary porphyrin excretions in American HCV-positive patients without clinically manifest PCT. Clinical and laboratory data, including tests for HCV and urinary porphyrins, were collected from 70 unselected patients with typical PCT. Urinary porphyrins were also measured in 110 non-PCT patients with chronic hepatitis C. Mutational analyses of the HFE gene were performed in 26 PCT patients. Thirtynine of 70 (56%) of the PCT patients had evidence of HCV infection. Thirty-two of 39 PCT patients with HCV were men, all of whom used alcohol. In contrast, 22 of 31 PCT patients without HCV infection were women, 12 of whom had taken estrogens. The HCV-positive group was more likely to have used illicit intravenous drugs (45% vs. 0%; P ‫؍‬ 0.01), to have had several (G4) sex partners (48% vs. 13%; P ‫؍‬ 0.005), and less likely to have no known risk factors for HCV infection (33% vs. 78%; P ‫؍‬ 0.004). Total urinary porphyrin excretion was the same in the two groups, but those with HCV infection had a significantly lower percentage of uroporphyrin and higher percentages of hepta-and hexa-carboxy porphyrins in urine. Sixteen of 110 (15%) HCV-positive subjects without PCT had increased urinary porphyrins, but, unlike PCT, these were mainly coproporphyrin. Forty-two percent of PCT patients carried the C282Y mutation of HFE (15% homozygous), and another 31% carried the H63D mutation (8% homozygous). Thus, 73% of PCT patients had one of these mutations. The prevalence of HCV infection (56%) and mutations in the HFE gene (73%) are high among North American patients with PCT. Alcohol and estrogen use are important additional risk factors. All PCT patients should be tested for HCV infection and for HFE gene mutations. Although HCV infection is a trigger for PCT, preclinical PCT is rare in chronic HCV hepatitis C in the United States. (HEPATOLOGY 1998;27:1661-1669.)

show abstract

Section: And Elder 3 )mentioning

confidence: 99%

Porphyria cutanea tarda, hepatitis C, and HFE gene mutations in north america†

et al. 1998

View full text Add to dashboard Cite

show abstract

“…In Italy and in other Mediterranean countries hepatitis C virus (HCV) infection is the single most frequent cause of liver disease in PCT patients, 6,21,22 while it is rare in Northern European countries. 23,24 The aim of this work is to investigate whether HFE mutations have a role as genetic susceptibility factors for PCT in a population with a high prevalence of an acquired triggering factor, such as HCV chronic infection.…”

mentioning

confidence: 99%

High prevalence of the His63Asp HFE mutation in italian patients with porphyria cutanea tarda

et al. 1998

View full text Add to dashboard Cite

Sporadic porphyria cutanea tarda (PCT) is caused by a reduced activity of uroporphyrinogen decarboxylase (URO-D) in the liver. Mild to moderate iron overload is common in PCT, as iron is one of the factors which trigger the clinical manifestations of the disease through the inactivation of URO-D. A role for genetic hemochromatosis in the development of iron overload in sporadic PCT has been hypothesized in the past. The aim of this work was to investigate whether mutations of HFE, which is a candidate gene for hemochromatosis, play the role of genetic susceptibility factors for PCT in Italian patients, who have a high prevalence of acquired triggering factors, such as hepatitis C virus (HCV) chronic infection and alcohol. We determined HFE genotypes of 68 male patients with PCT. Our data do not confirm an association of PCT with the Cys282Tyr HFE mutation, strongly associated with hemochromatosis in Northern European countries. A second mutation of HFE, His63Asp, however, had a significantly increased frequency as it was present in half of the patients. Surprisingly, the presence of the His63Asp mutation was not related to the iron status of patients, suggesting that a subtle abnormality of iron metabolism induced by this mutation could escape detection by the standard parameters of iron status. In PCT patients with liver disease, the presence of the mutation could contribute to the inactivation of URO-D, either directly or through a synergistic action with other factors that cause liver damage. (HEPATOLOGY 1998;27;181-184.)

show abstract

“…Existe una importante variedad geográfica en la prevalencia de la infección por el VHC en pacientes con PCT, con elevadas tasas en países mediterráneos y Sudamérica (70-90%) (4,(10)(11)(12), baja o intermedia (0-44%) en Europa Central y del Norte y en Australia (13)(14)(15)(16)(17). En Norteamérica, encontraron su asociación con el VHC en el 56% de los pacientes (18).…”

Section: Discussionunclassified

Porfiria cutánea tarda: asociación con mutaciones HFE, hepatitis virales, alcohol y otros factores de riesgo en Guipúzcoa, País Vasco

Castiella¹,

Zapata²,

Juan

et al. 2008

Rev. esp. enferm. dig.

View full text Add to dashboard Cite

RESUMENObjetivo: estudiar la frecuencia de las mutaciones en el gen HFE (C282Y, H63D, S65C) en un grupo de 54 pacientes con porfiria cutánea tarda (PCT) y en un grupo de controles sanos (donantes de sangre) en Guipúzcoa. También analizar su relación con los virus de la hepatitis B y C (VHB, VHC), alcohol y otros factores de riesgo reconocidos.Métodos: el análisis de las mutaciones se hizo mediante PCR. Se compararon las frecuencias alélicas y genotípicas. Se determinaron la probabilidad y el test de Chi cuadrado.Resultados: no encontramos asociación entre C282Y y PCT (5,76 vs. 5% controles). Se observó una alta frecuencia alélica en la mutación H63D en PCT (34,25%), pero sin ser estadísticamen-te significativa (controles 29,31%), debido a la alta prevalencia de esta mutación en la población vasca. La mutación S65C fue menor en PCT que en controles. Encontramos una idéntica presencia de H63D en heterocigosis en ambos grupos (38,8 vs. 38,8%). La asociación con el VHC se objetivó en el 35,18% de los pacientes y la infección por VHB en el 7,4%. Un 55,55% de los pacientes tenía un hábito alcohólico de más de 60 g etanol día. Todos eran negativos para el virus de la inmunodeficiencia humana (VIH) y 1 de las 5 mujeres con PCT tomaba estrógenos.Conclusión: las mutaciones C282Y y H63D no tienen un papel relevante en los pacientes con PCT en Guipúzcoa. Los factores externos (consumo importante de alcohol y VHC) parecen jugar un papel fundamental en el desarrollo de la PCT en nuestra población.Palabras clave: Porfiria cutánea tarda. Enfermedades hepáticas. Gen HFE. ABSTRACTAim: to study the frequency of HFE gene mutations (C282Y, H63D, S65C) in a group of 54 sporadic PCT patients and in a group of healthy controls (blood donors) from Guipúzcoa, Spain. We studied the association of PCT with HCV, HBV, alcohol abuse, and other established risk factors.Methods: the analysis of mutations was made by PCR. Allelic and genotypic frequencies were compared. Probability was determined and a Chi-squared test was performed.Results: no association was observed between C282Y mutation and PCT (5.76 vs. 5% in controls). A high H63D mutation frequency was observed in PCT (34.25%) but was not statistically significant (controls 29.31%) because of the high prevalence of this mutation in the Basque general population. The S65C mutation was lower in PCT than in controls. There is a similar presence for H63D heterozygosis in PCT (38.8 vs. 38.8%). HCV association was observed in 35.18% of patients with PCT. HBV infected 7.4% of patients. Heavy alcohol intake (> 60 g/day) was present in 55.55% of patients. No HIV-infected patients were detected. The study of other risk factors revealed only one of the five women with PCT taking estrogens.Conclusion: our results found no relevant role for C282Y and H63D mutations. External factors such as HCV and alcohol could be determinant in the development of PCT in the Basque population.

show abstract

HCV infection in porphyria cutanea tarda

Cited by 78 publications

References 2 publications

Porphyria cutanea tarda, hepatitis C, and HFE gene mutations in north america†

Porphyria cutanea tarda, hepatitis C, and HFE gene mutations in north america†

High prevalence of the His63Asp HFE mutation in italian patients with porphyria cutanea tarda

Porfiria cutánea tarda: asociación con mutaciones HFE, hepatitis virales, alcohol y otros factores de riesgo en Guipúzcoa, País Vasco

Contact Info

Product

Resources

About