Resumo: Trata-se de revisão sobre a porfiria cutânea tardia em que são abordados a fisiopatogenia, as características clínicas, as doenças associadas, os fatores desencadeantes, a bioquímica, a histopatologia, a microscopia eletrônica, a microscopia de imunofluorescên-cia e o tratamento da doença.

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

L Study of direct immunofluorescence, immunofluorescence mapping and light microscopy in porphyria cutanea tardaEstudo da imunofluorescência direta, imunomapeamento e microscopia ótica na porfiria cutânea tardia Abstract: BACKGROUND: Even though porphyria cutanea tarda is the most frequent type of porphyria, there are few studies about its cutaneous physiopathology. OBJECTIVE: To evaluate skin changes in porphyria cutanea tarda using light microscopy and direct immunofluorescence before and after treatment with chloroquine. To perform antigen immunomapping of bullae to study their level of cleavage. METHODS: Light microscopy and direct immunofluorescence of 28 patients are reported in three different phases: 23 patients with active porphyria before treatment (Phase A), 7 patients with clinical remission during treatment (Phase B), and 8 patients with biochemical remission (Phase C). Immunomapping was performed on 7 patients. RESULTS: In active porphyria, direct immunofluorescence showed homogenous and intense fluorescence on the inside and on the walls of blood vessels as well as in the dermal-epidermal junction. In clinical remission (Phase B) and biochemical remission (Phase C), the deposit of immunoglobulins was maintained, but the deposit of complement was reduced in most cases. Immunomapping revealed no standard cleavage plane. CONCLUSION: No correlation was observed between clinical response and immunoglobulin deposits. The reduction of complement favors the hypothesis that activation of the complement cascade represents an additional pathway that leads to endothelial damage. Keywords: Fluorescent antibody technique; Microscopy; Porphyria cutanea tarda; Porphyria cutanea tarda/physiopathology Resumo: FUNDAMENTO: Apesar de a porfiria cutânea tardia ser a mais frequente das porfirias, há poucos estudos que abordam sua fisiopatologia cutânea. OBJETIVO: Avaliar as alterações cutâneas na porfiria cutânea tardia utilizando a microscopia ótica e a imunofluorescência direta, antes e depois do tratamento com cloroquina. Realizar o imunomapeamento antigênico da bolha para estudo do seu nível de clivagem. MÉTODOS: Relata-se a microscopia ótica e imunofluorescência direta de 28 pacientes em três fases diferentes: 23 pacientes com porfiria ativa antes do tratamento (Fase A), sete pacientes com remissão clínica durante o tratamento (Fase B) e oito pacientes com remissão bioquímica (Fase C). O imunomapeamento foi realizado em sete pacientes. RESULTADOS: Na porfiria ativa, a imunofluorescência direta demonstrou fluorescência homogênea e intensa no interior e na parede dos vasos e na junção dermoepidérmica. Na remissão clínica (Fase B) e na remissão bioquímica (Fase C), o depósito de imunoglobulinas se manteve, mas o depósito de complemento apresentou diminuição na maioria. O imunomapeamento não demonstrou plano de clivagem fixo. CONCLUSÃO: Não houve correlação entre a resposta clínica e os depósitos de imunoglobulinas. A diminuição do complemento favorece a hipótese de que a ativação da cascata do complemento representa u...

Vieira FMJ. Porphyria Cutanea Tarda with hemochromatosis gene mutations C282Y and H63D and retrospective analysis of the iron profile in relation to treatment: study of 60 cases [Thesis] São Paulo: "

Porfiria cutânea tardia. Estudo evolutivo das características clínicas e laboratoriais: bioquímica, imunofluorescênciae microscopia óptica.

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Background Porphyria cutanea tarda (PCT) is the most common porphyria worldwide.The known acquired precipitating factors that induce PCT include alcoholism, hepatitis C virus infection, human immunodeficiency virus infection, and estrogen intake. Hereditary hemochromatosis is considered an inherited risk factor. The aim of this study was to describe and analyze precipitating factors and family history, with emphasis on PCT management. Methods A retrospective study of 87 patients with PCT was conducted between January 2002 and December 2017.Results A male predominance of 1.8 : 1 was found. The median age at diagnosis was 49 years (range 18-71). Family history of PCT was observed in 19.5% of patients. Two or more acquired precipitating factors were present in 42.5%. Patients were treated with antimalarial monotherapy (72.4%), antimalarial combined with phlebotomy (22.9%), and only with phlebotomy (4.6%). Acquired precipitating factors and inherited factors were not associated with treatment group. There was a difference in 24 h-UP normalization rate between treatment groups; combined therapy takes longer than antimalarial monotherapy, 38 months versus 15 months, respectively (CI 95%, 6.5-63.5 vs. 12.9-17) (log-rank test, P = 0.004).Conclusion Precipitating factors did not seem to be associated with treatment choice; however, all acquired and inherited precipitating factors should be investigated, and the choice between phlebotomy and/or antimalarials should be individualized. All dermatologists treating PCT patients should observe transferrin saturation and ferritin levels to search for underlying hereditary hemochromatosis. * P = 0.021 according to a t-test.