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Precipitating factors of porphyria cutanea tarda in Brazil with emphasis on hemochromatosis gene (HFE) mutations. Study of 60 patients.

Vieira FM, Nakhle MC, Abrantes-Lemos CP, Cançado EL, Reis VM - An Bras Dermatol (2013 Jul-Aug)

Bottom Line: Hepatitis C was present in 41.7%.All HIV-positive patients (15.3%) had a history of alcohol abuse.HFE mutations had no association with the other precipitating factors.

View Article: PubMed Central - PubMed

Affiliation: Department of Dermatology, Medical School, São Paulo University, Sao PauloSP, Brazil.

ABSTRACT

Background: Porphyria cutanea tarda is the most common form of porphyria, characterized by the decreased activity of the uroporphyrinogen decarboxylase enzyme. Several reports associated HFE gene mutations of hereditary hemochromatosis with porphyria cutanea tarda worldwide, although up to date only one study has been conducted in Brazil.

Objectives: Investigation of porphyria cutanea tarda association with C282Y and H63D mutations in the HFE gene. Identification of precipitating factors (hepatitis C, HIV, alcoholism and estrogen) and their link with HFE mutations.

Methods: An ambispective study of 60 patients with PCT was conducted during the period from 2003 to 2012. Serological tests for hepatitis C and HIV were performed and histories of alcohol abuse and estrogen intake were investigated. HFE mutations were identified with real-time PCR.

Results: Porphyria cutanea tarda predominated in males and alcohol abuse was the main precipitating factor. Estrogen intake was the sole precipitating factor present in 25% of female patients. Hepatitis C was present in 41.7%. All HIV-positive patients (15.3%) had a history of alcohol abuse. Allele frequency for HFE mutations, i.e., C282Y (p = 0.0001) and H63D (p = 0.0004), were significantly higher in porphyria cutanea tarda patients, compared to control group. HFE mutations had no association with the other precipitating factors.

Conclusions: Alcohol abuse, hepatitis C and estrogen intake are prevalent precipitating factors in our porphyria cutanea tarda population; however, hemochromatosis in itself can also contribute to the outbreak of porphyria cutanea tarda, which makes the research for HFE mutations necessary in these patients.

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Distribution of coexisting precipitating factors
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f01: Distribution of coexisting precipitating factors

Mentions: The genotype did not interfere in age of onset of PCT. Mixed ethnicities were prevalentin most patients (72%) and the other ethnic groups were: Euro-Brazilian (23%), AfricanBrazilian (3%) and Asian Brazilian (2%). The precipitating factors considered were:alcoholism, hepatitis C virus (HCV), estrogen intake, family history of PCT anddiagnosis of hereditary hemochromatosis (HH) (considering clinical manifestation and/orpresence of C282Y/C282Y or C282Y/H63D mutations). The majority of patients (63%)presented two or more coexisting precipitating factors. Graph 1 shows the distribution of number of precipitating factors coexistingin the population of 60 patients and these factors are described in table 1.


Precipitating factors of porphyria cutanea tarda in Brazil with emphasis on hemochromatosis gene (HFE) mutations. Study of 60 patients.

Vieira FM, Nakhle MC, Abrantes-Lemos CP, Cançado EL, Reis VM - An Bras Dermatol (2013 Jul-Aug)

Distribution of coexisting precipitating factors
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC3760927&req=5

f01: Distribution of coexisting precipitating factors
Mentions: The genotype did not interfere in age of onset of PCT. Mixed ethnicities were prevalentin most patients (72%) and the other ethnic groups were: Euro-Brazilian (23%), AfricanBrazilian (3%) and Asian Brazilian (2%). The precipitating factors considered were:alcoholism, hepatitis C virus (HCV), estrogen intake, family history of PCT anddiagnosis of hereditary hemochromatosis (HH) (considering clinical manifestation and/orpresence of C282Y/C282Y or C282Y/H63D mutations). The majority of patients (63%)presented two or more coexisting precipitating factors. Graph 1 shows the distribution of number of precipitating factors coexistingin the population of 60 patients and these factors are described in table 1.

Bottom Line: Hepatitis C was present in 41.7%.All HIV-positive patients (15.3%) had a history of alcohol abuse.HFE mutations had no association with the other precipitating factors.

View Article: PubMed Central - PubMed

Affiliation: Department of Dermatology, Medical School, São Paulo University, Sao PauloSP, Brazil.

ABSTRACT

Background: Porphyria cutanea tarda is the most common form of porphyria, characterized by the decreased activity of the uroporphyrinogen decarboxylase enzyme. Several reports associated HFE gene mutations of hereditary hemochromatosis with porphyria cutanea tarda worldwide, although up to date only one study has been conducted in Brazil.

Objectives: Investigation of porphyria cutanea tarda association with C282Y and H63D mutations in the HFE gene. Identification of precipitating factors (hepatitis C, HIV, alcoholism and estrogen) and their link with HFE mutations.

Methods: An ambispective study of 60 patients with PCT was conducted during the period from 2003 to 2012. Serological tests for hepatitis C and HIV were performed and histories of alcohol abuse and estrogen intake were investigated. HFE mutations were identified with real-time PCR.

Results: Porphyria cutanea tarda predominated in males and alcohol abuse was the main precipitating factor. Estrogen intake was the sole precipitating factor present in 25% of female patients. Hepatitis C was present in 41.7%. All HIV-positive patients (15.3%) had a history of alcohol abuse. Allele frequency for HFE mutations, i.e., C282Y (p = 0.0001) and H63D (p = 0.0004), were significantly higher in porphyria cutanea tarda patients, compared to control group. HFE mutations had no association with the other precipitating factors.

Conclusions: Alcohol abuse, hepatitis C and estrogen intake are prevalent precipitating factors in our porphyria cutanea tarda population; however, hemochromatosis in itself can also contribute to the outbreak of porphyria cutanea tarda, which makes the research for HFE mutations necessary in these patients.

Show MeSH
Related in: MedlinePlus