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

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dc.contributorSistema FMUSP-HC: Faculdade de Medicina da Universidade de São Paulo (FMUSP) e Hospital das Clínicas da FMUSP
dc.contributor.authorVIEIRA, Fatima Mendonca Jorge
dc.contributor.authorNAKHLE, Maria Cristina
dc.contributor.authorABRANTES-LEMOS, Clarice Pires
dc.contributor.authorCANCADO, Eduardo Luiz Rachid
dc.contributor.authorREIS, Vitor Manoel Silva dos
dc.date.accessioned2014-01-28T22:21:51Z
dc.date.available2014-01-28T22:21:51Z
dc.date.issued2013
dc.description.abstractBACKGROUND: 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
dc.description.abstractFUNDAMENTOS: A porfiria cutânea tardia é a forma mais comum das porfirias e caracteriza-se pela diminuição da atividade da enzima uroporfirinogênio descarboxilase. Há vários relatos da associação das mutações do gene HFE da hemocromatose hereditária com porfiria cutânea tardia no mundo, mas até hoje apenas um estudo foi realizado no Brasil. OBJETIVOS: Estudar a associação da porfiria cutânea tardia com as mutações C282Y e H63D do gene HFE. Identificar os fatores precipitantes (hepatite C, HIV, etilismo e estrógeno) e sua relação com as mutações HFE. MÉTODOS: Estudo ambispectivo de 60 pacientes com porfiria cutânea tardia no período de 2003 a 2012. Investigou-se as sorologias para hepatite C, anti-HIV, histórico de etilismo e ingestão de estrógenos. As mutações HFE foram identificadas com PCR em tempo real. RESULTADOS: A porfiria cutânea tardia predominou no sexo masculino e o etilismo foi o principal fator precipitante. A ingestão de estrógenos foi o único fator precipitante em 25% das mulheres. A hepatite C estava presente em 41,7%. Todos os pacientes com HIV (15,3%) apresentavam etilismo associado. A frequência dos alelos C282Y (p=0,0001) e H63D (p=0,0004) do gene HFE foi significativamente mais elevada nos pacientes com porfiria cutânea tardia em relação à população controle. As mutações HFE não apresentavam associação com os demais fatores precipitantes. CONCLUSÕES: Etilismo, hepatite C e ingestão de estrógenos (em mulheres) são fatores precipitantes prevalentes na nossa população com porfiria cutânea tardia, entretanto a hemocromatose isoladamente também pode contribuir para o desencadeamento da porfiria cutânea tardia, o que torna a pesquisa das mutações HFE necessária nestes pacientes.
dc.description.indexMEDLINE
dc.description.sponsorshipFundacao de Apoio a Pesquisa do Estado de Sao Paulo (Fapesp) [2010/51781-4]
dc.identifier.citationANAIS BRASILEIROS DE DERMATOLOGIA, v.88, n.4, p.530-540, 2013
dc.identifier.doi10.1590/abd1806-4841.20132048
dc.identifier.issn0365-0596
dc.identifier.urihttps://observatorio.fm.usp.br/handle/OPI/4063
dc.language.isoeng
dc.publisherSOC BRASILEIRA DERMATOLOGIA
dc.relation.ispartofAnais Brasileiros de Dermatologia
dc.rightsopenAccess
dc.rights.holderCopyright SOC BRASILEIRA DERMATOLOGIA
dc.subjectHemochromatosis
dc.subjectHepatitis
dc.subjectMutation
dc.subjectPorphyria cutanea tarda
dc.subjectHemocromatose
dc.subjectHepatite
dc.subjectMutação
dc.subjectPorfiria cutânea tardia
dc.subjectSobrecarga de ferro
dc.subject.otherc-virus-infection
dc.subject.otherhepatitis-c
dc.subject.otheriron-overload
dc.subject.otheruroporphyrinogen-decarboxylase
dc.subject.otherhereditary hemochromatosis
dc.subject.otherphlebotomy therapy
dc.subject.otheritalian patients
dc.subject.otherc282y mutation
dc.subject.otherh63d
dc.subject.otherassociation
dc.subject.wosDermatology
dc.titlePrecipitating factors of porphyria cutanea tarda in Brazil with emphasis on hemochromatosis gene (HFE) mutations. Study of 60 patients
dc.title.alternativeFatores precipitantes na porfiria cutânea tardia no Brasil com ênfase nas mutações do gene (HFE) da hemocromatose. Estudo de 60 casos
dc.typearticle
dc.type.categoryoriginal article
dc.type.versionpublishedVersion
dspace.entity.typePublication
hcfmusp.citation.scopus8
hcfmusp.contributor.author-fmusphcFATIMA MENDONCA JORGE VIEIRA
hcfmusp.contributor.author-fmusphcMARIA CRISTINA NAKHLE
hcfmusp.contributor.author-fmusphcCLARICE PIRES ABRANTES LEMOS
hcfmusp.contributor.author-fmusphcEDUARDO LUIZ RACHID CANCADO
hcfmusp.contributor.author-fmusphcVITOR MANOEL SILVA DOS REIS
hcfmusp.description.beginpage530
hcfmusp.description.endpage540
hcfmusp.description.issue4
hcfmusp.description.volume88
hcfmusp.origemWOS
hcfmusp.origem.pubmed24068123
hcfmusp.origem.scieloSCIELO:S0365-05962013000400530
hcfmusp.origem.scopus2-s2.0-84884749857
hcfmusp.origem.wosWOS:000324929100005
hcfmusp.publisher.cityRIO DE JANEIRO RJ
hcfmusp.publisher.countryBRAZIL
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