Frequency of Occurrence of Hepatocellular Carcinoma in Patients With Porphyria Cutanea Tarda in Long-term Follow-up

Kordač, V

doi:10.1007/978-3-642-67002-2_41

Cited by 19 publications

(24 citation statements)

References 2 publications

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“…Homozygosity for the C282Y mutation seems to increase the risk for HCC in cirrhotic patients, but neither heterozygous nor compound heterozygous (C282Y/H63D) mutations are unequivocally identified risk factors [22,23] . In 2001, PCT was described to be a risk factor for the development of malignant liver tumours, confirming similar observations reported over 30 years earlier [24][25][26] . Combining these statements we describe the unusual combination of HCC in a non-cirrhotic patient with two rather rare conditions, HHC and PCT.…”

Section: Discussionsupporting

confidence: 78%

An unhappy triad: Hemochromatosis, porphyria cutanea tarda and hepatocellular carcinoma-A case report

Mogl

Pascher²,

Presser³

et al. 2007

WJG

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Liver fibrosis and cirrhosis are predisposing factors for the development of hepatocellular carcinoma (HCC). Hemosiderosis has also been described to trigger carcinogenesis. A significant iron overload, as found in hereditary hemochromatosis (HHC), is a risk factor for HCC and may also promote the symptoms of porphyria cutanea tarda (PCT). A 68-year old male patient presented to our clinic with a suspected HCC, elevated alpha-fetoprotein but normal liver function tests. He reported a 25 year-old history of vitiligo upon exposure to sunlight. The patient underwent an extended left hemihepatectomy, and the recovery was uneventful, with the exception of a persistent hyperbilirubinemia. Perfusion problems and extrahepatic cholestasis were ruled out by CT-scan with angiography and MR-cholangiopancreatography. However, MRI showed an iron overload. Histology confirmed the HCC (pT3, pN0, G3, R0) and revealed a portal fibrosis and hemosiderosis. Based on the skin lesions we suspected a PCT that was confirmed by laboratory tests showing elevated porphyrin, uroporphyrin, coproporphyrin and porphobilinogen. Concurrently, molecular diagnostics revealed homozygosity for the C282Y mutation within the hemochromatosis HFE gene. After phlebotomy and normalization of liver function tests the patient was discharged. This is the first case ever showing the unusual combination of HCC in a fibrotic liver with HHC and PCT. This diagnosis not only warrants oncological follow-up but also symptomatic therapy to normalize iron metabolism and thereby improve liver function and alleviate the symptoms of HHC and PCT. Thus progression of fibrosis may be prevented and liver regeneration supported.

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Section: Discussionsupporting

confidence: 78%

An unhappy triad: Hemochromatosis, porphyria cutanea tarda and hepatocellular carcinoma-A case report

Mogl

Pascher²,

Presser³

et al. 2007

WJG

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“…This observation is in accordance with porphyria cutanea tarda being associated with hepatic iron overload and the disease being responsive to iron-reduction therapy. 12 The close association between hepatitis C and porphyria cutanea tarda 13 and the fact that hepatocellular carcinoma is occasionally seen in patients with porphyria cutanea tarda 14 further support the idea that a common pathogenic factor could be iron overload mediated by increased intestinal absorption due to mutations in the HFE gene.…”

Section: Discussionmentioning

confidence: 74%

Hemochromatosis genotypes and risk of 31 disease endpoints: Meta-analyses including 66,000 cases and 226,000 controls

et al. 2007

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Hemochromatosis genotypes have been associated with liver disease, diabetes mellitus, heart disease, arthritis, porphyria cutanea tarda, stroke, neurodegenerative disorders, cancer, and venous disease. We performed meta-analyses including 202 studies with 66,263 cases and 226,515 controls to examine associations between hemochromatosis genotypes C282Y/C282Y, C282Y/H63D, C282Y/wild type, H63D/H63D, and H63D/wild type versus wild type/wild type and 9 overall endpoints and 22 endpoint subgroups. We also explored potential sources of heterogeneity. For liver disease, the odds ratio for C282Y/C282Y versus wild type/wild type was 3.9 (99% confidence interval: 1.9-8.1) overall, 11 (3.7-34) for hepatocellular carcinoma, 4.1 (1.2-14) for hepatitis C, and 10 (2.1-53) for nonalcoholic steatohepatitis. For porphyria cutanea tarda, the odds ratios were 48 (24-95) for C282Y/C282Y, 8.1 (3.9-17) for C282Y/H63D, 3.6 (1.8-7.3) for C282Y/wild type, 3.0 (1.6-5.6) for H63D/H63D, and 1.7 (1.0-3.1) for H63D/wild type versus wild type/wild type. Finally, for amyotrophic lateral sclerosis, the odds ratio was 3.9 (1.2-13) for H63D/H63D versus wild type/wild type. These findings were consistent across individual studies. The hemochromatosis genotypes were not associated with risk for diabetes mellitus, heart disease, arthritis, stroke, cancer, or venous disease in the overall analyses; however, the odds ratio for C282Y/C282Y versus wild type/wild type was 3.4 (1.1-11) for diabetes mellitus among North Europeans. Conclusion: In aggregate, clinically ascertained cases who are homozygous for the C282Y mutation are associated with a 4-11-fold risk of liver disease, whereas all 5 hemochromatosis genotypes are associated with a 2-48-fold risk of porphyria cutanea tarda, and H63D/H63D is associated with a 4-fold risk of amyotrophic lateral sclerosis. These results, mainly from case-control studies, cannot necessarily be extrapolated to the general population. (HEPATOLOGY

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“…Several studies have confirmed the 100 to 200-fold risk of HCC in porphyria cutanea tarda, which does not belong to the group of acute hepatic porphyrias (Berman & Braun, 1962;Kordac, 1972;Solis et al, 1982). Porphyria cutanea tarda is associated with gross liver abnormalities (Cortes et al, 1980), including cirrhosis in many patients which may be the morphological basis for HCC in this type of porphyria.…”

Section: Pathologymentioning

confidence: 99%

Acute hepatic porphyria and hepatocellular carcinoma

Kauppinen

Mustajoki²

1988

Br J Cancer

121

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Among the 82 deceased patients the cause of death was porphyria in 29 (36%), cardiovascular disease in 23 (29%) and hepatocellular carcinoma in 7 (9%). Of the 7 patients with hepatocellular carcinoma, 6 had acute intermittent porphyria and one had variegate porphyria.In acute hepatic porphyria, as compared with the total population, the calculated risk of hepatocellular carcinoma is increased 61-fold.

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Frequency of Occurrence of Hepatocellular Carcinoma in Patients With Porphyria Cutanea Tarda in Long-term Follow-up

Cited by 19 publications

References 2 publications

An unhappy triad: Hemochromatosis, porphyria cutanea tarda and hepatocellular carcinoma-A case report

An unhappy triad: Hemochromatosis, porphyria cutanea tarda and hepatocellular carcinoma-A case report

Hemochromatosis genotypes and risk of 31 disease endpoints: Meta-analyses including 66,000 cases and 226,000 controls

Acute hepatic porphyria and hepatocellular carcinoma

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