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Precipitating factors of porphyria cutanea tarda in Brazil with emphasis on hemochromatosis gene (HFE) mutations. Study of 60 patients.
An Bras Dermatol. 2013 Jul-Aug; 88(4):530-40.AB

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.

Authors+Show Affiliations

Department of Dermatology, Medical School, São Paulo University, Sao PauloSP, Brazil.No 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

24068123

Citation

Vieira, Fatima Mendonça Jorge, et al. "Precipitating Factors of Porphyria Cutanea Tarda in Brazil With Emphasis On Hemochromatosis Gene (HFE) Mutations. Study of 60 Patients." Anais Brasileiros De Dermatologia, vol. 88, no. 4, 2013, pp. 530-40.
Vieira FM, Nakhle MC, Abrantes-Lemos CP, et al. Precipitating factors of porphyria cutanea tarda in Brazil with emphasis on hemochromatosis gene (HFE) mutations. Study of 60 patients. An Bras Dermatol. 2013;88(4):530-40.
Vieira, F. M., Nakhle, M. C., Abrantes-Lemos, C. P., Cançado, E. L., & Reis, V. M. (2013). Precipitating factors of porphyria cutanea tarda in Brazil with emphasis on hemochromatosis gene (HFE) mutations. Study of 60 patients. Anais Brasileiros De Dermatologia, 88(4), 530-40. https://doi.org/10.1590/abd1806-4841.20132048
Vieira FM, et al. Precipitating Factors of Porphyria Cutanea Tarda in Brazil With Emphasis On Hemochromatosis Gene (HFE) Mutations. Study of 60 Patients. An Bras Dermatol. 2013 Jul-Aug;88(4):530-40. PubMed PMID: 24068123.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Precipitating factors of porphyria cutanea tarda in Brazil with emphasis on hemochromatosis gene (HFE) mutations. Study of 60 patients. AU - Vieira,Fatima Mendonça Jorge, AU - Nakhle,Maria Cristina, AU - Abrantes-Lemos,Clarice Pires, AU - Cançado,Eduardo Luiz Rachid, AU - Reis,Vitor Manoel Silva dos, PY - 2012/08/05/received PY - 2012/09/09/accepted PY - 2013/9/27/entrez PY - 2013/9/27/pubmed PY - 2014/4/3/medline SP - 530 EP - 40 JF - Anais brasileiros de dermatologia JO - An Bras Dermatol VL - 88 IS - 4 N2 - 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. SN - 1806-4841 UR - https://www.unboundmedicine.com/medline/citation/24068123/Precipitating_factors_of_porphyria_cutanea_tarda_in_Brazil_with_emphasis_on_hemochromatosis_gene__HFE__mutations__Study_of_60_patients_ L2 - https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/24068123/ DB - PRIME DP - Unbound Medicine ER -