Screening of patients with iron overload to identify hemochromatosis and porphyria cutanea tarda

O’Reilly, Fiona; Darby, C; Fogarty, J.; Tormey, William; Kay, E.; Leader, M.; Murphy, G. M.

doi:10.1001/archderm.133.9.1098

Cited by 18 publications

(20 citation statements)

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“…Several studies investigating the association of C282Y heterozygosity with morbidity have given conflicting results, as is exemplified by diabetes, cardiovascular diseases, extrahepatic cancers, and alcoholic liver disease (Fuchs et al 2002). On the other hand, such association seems unambiguous in the case of sporadic porphyria cutanea tarda (OÕReilly et al 1997).…”

Section: Discussionmentioning

confidence: 99%

A hemochromatosis-causing mutation C282Y is a risk factor for proliferative diabetic retinopathy in Caucasians with type 2 diabetes

et al. 2003

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Iron metabolism might be involved in the pathogenesis of type 2 diabetes and in the pathogenesis of diabetic retinopathy. C282Y and H63D mutations in the hemochromatosis (HFE) gene are associated with increased serum iron levels and consequently with hereditary hemochromatosis. In the present study, we searched for a relationship between C282Y and H63D gene mutations and the development of proliferative diabetic retinopathy in Caucasians with type 2 diabetes. For this purpose, 90 subjects with type 2 diabetes with proliferative diabetic retinopathy (PDR) were compared to 133 diabetic subjects without PDR. There was a significantly higher frequency of the C282Y heterozygotes in patients with PDR compared to subjects without it (OR=3.0, 95% CI=1.2-8.0; p=0.02), whereas no association was demonstrated between PDR and H63D genotypes (OR=1.1, 95% CI=0.6-2.2; p=0.7). Logistic regression analysis revealed that the C282Y mutation was a significant independent risk factor for the development of PDR (OR=6.1, 95% CI=1.2-30.5; p=0.027). These data suggest that heterozygosity for C282Y might be a novel risk factor for PDR in Caucasians with type 2 diabetes.

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Section: Discussionmentioning

confidence: 99%

A hemochromatosis-causing mutation C282Y is a risk factor for proliferative diabetic retinopathy in Caucasians with type 2 diabetes

et al. 2003

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“…É caracterizada clinicamente por hiperpigmentação cutânea difusa, fotosensibilidade com lesões vesicobolhosas, erosões ou raramente ulcerações em áreas fotoexpostas, fragilidade da pele, hipertricose e milia. As duas primeiras são as manifestações mais evidentes 7,10,11 . A PCT é causada por alterações na via de síntese de heme levando ao acúmulo de uroporfirinas altamente carboxiladas no plasma e na pele.…”

Section: Discussionunclassified

Hiperpigmentação cutânea em pacientes com insuficiência renal crônica em hemodiálise infectados pelo vírus da hepatite C

Choi¹,

Thomé²,

Orlandini³

et al. 2003

Rev. Assoc. Med. Bras.

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RESUMO -OBJETIVO. A hiperpigmentação cutânea é comumente encontrada em pacientes portadores de insuficiência renal crônica (IRC), sendo também uma das manifestações mais evidentes da Porfiria Cutânea Tarda (PCT). Essa doença, que tem sido relatada em pacientes em hemodiálise (HD), tem como um dos fatores precipitantes a infecção pelo vírus da hepatite C (HCVportante desencadeador de um distúrbio do metabolismo das porfirinas que pode se expressar clinicamente por esse sintoma [5][6][7][8] . O objetivo deste estudo é avaliar a prevalência de hiperpigmentação cutânea difusa em pacientes com insuficiência renal crô-nica tratados com hemodiálise que foram infectados pelo HCV.

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“…Iron seems to play an important pathophysiological role in HCV infection as, for example, effects of iron depletion on disease activity suggest (38,39). Increased porphyrin excretion has been described in patients with hemochromatosis (40). Among PCT patients, a large proportion of 44 % was found to have mutations of the hemochromatosis gene, HFE (41).…”

Section: Discussionmentioning

confidence: 99%

Urinary Porphyrin Excretion in Hepatitis C Infection

Vogeser¹,

Jacob²,

Zachoval³

1999

CCLM

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A high prevalence of hepatitis C virus infection in porphyria cutanea tarda in some populations suggests a close link between viral hepatitis and alteration of porphyrin metabolism. Moreover, there is evidence of a role of porphyrinopathies in hepatocarcinogenesis. The aim of our study was to obtain data on the prevalence and patterns of heme metabolism alterations in patients with chronic hepatitis C virus infection. Urinary porphyrin excretion was prospectively studied in 100 consecutive outpatients with chronic hepatitis C infection without signs of photosensitivity, using an ion-pair high-performance liquid chromatography method. Increased total porphyrin excretion was found in 41 patients, with predominant excretion of coproporphyrins (whole study group: mean 146 µg/g creatinine, interquartile range 76-186; normal < 150), in 10 patients excretion exceeded 300 µg/g creatinine. In the majority of all patients studied (75/100) an increased ratio of the relatively hydrophobic coproporphyrin isomer I to isomer III was found. In just one case, urinary porphyrin pattern characteristic for chronic hepatic porphyria was present (uroporphyrin > coproporphyrin, heptacarboxyporphyrin III increased) but the total porphyrin excretion was only slightly elevated in this case. In the whole group, total urinary porphyrin excretion correlated well with serum bilirubin and was inversely correlated with albumin and thrombin time. In conclusion, secondary coproporphyrinuria occurs frequently in heptatitis C infection, whereas in Germany, preclinical porphyria cutanea tarda seems to be rare in these patients.

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Screening of patients with iron overload to identify hemochromatosis and porphyria cutanea tarda

Cited by 18 publications

References 0 publications

A hemochromatosis-causing mutation C282Y is a risk factor for proliferative diabetic retinopathy in Caucasians with type 2 diabetes

A hemochromatosis-causing mutation C282Y is a risk factor for proliferative diabetic retinopathy in Caucasians with type 2 diabetes

Hiperpigmentação cutânea em pacientes com insuficiência renal crônica em hemodiálise infectados pelo vírus da hepatite C

Urinary Porphyrin Excretion in Hepatitis C Infection

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