Familial Porphyria cutanea tarda with Normal Erythrocytic Urodecarboxylase: An Exception to the Rule?

Gandolfo, L. D'Alessandro; Griso, D.; Macrí, A.; Biolcati, G.; Topi, G. C.

doi:10.1159/000248428

Cited by 10 publications

(5 citation statements)

References 5 publications

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“…Type 3 PCT is biochemically indistinguishable from type 1 (with normal erythrocyte UROD levels), but it affects more than one family member (D'Alessandro Gondolfo et al, ). It occurs in a small number of patients (<5%).…”

Section: Non‐acute Hepatic Porphyriasmentioning

confidence: 99%

Porphyria Diagnostics—Part 1: A Brief Overview of the Porphyrias

2015

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The porphyria diseases are a group of metabolic disorders caused by abnormal functioning of heme biosynthesis enzymes and characterized by the excessive accumulation and excretion of porphyrins and their precursors. Precisely which of these chemicals builds up depends on the type of porphyria. Porphyria is not a single disease but a group of nine disorders: acute intermittent porphyria (AIP), hereditary coproporphyria (HCP), variegate porphyria (VP), delta-aminolevelunic acid dehyratase deficiency porphyria (ADP), porphyria cutanea tarda (PCT), hepatoerythropoetic porphyria (HEP), congenital erythropoetic porphyria (CEP), erythropoetic protoporphyria (EPP), and X-linked protoporphyria (XLP). Each porphyria results from overproduction of heme precursors secondary to partial deficiency or, in XLP, increased activity of one of the enzymes of heme biosynthesis. Taken together, all forms of porphyria afflict fewer than 200,000 people in the United States. Based on European studies, the prevalence of the most common porphyria, PCT, is 1 in 10,000, the most common acute porphyria, AlP, is about 1 in 20,000, and the most common erythropoietic porphyria, EPP, is estimated at 1 in 50,000 to 75,000. CEP is extremely rare with prevalence estimates of 1 in 1,000,000 or less. Only 6 cases of ADP are documented. The current porphyria literature is very exhaustive and a brief overview of porphyria diseases is essential in order for the reader to better appreciate the relevance of this area of research prior to undertaking biochemical diagnostics procedures. This unit summarizes the current knowledge on the classification, clinical features, etiology, pathogenesis, and genetics of these porphyria diseases.

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Section: Non‐acute Hepatic Porphyriasmentioning

confidence: 99%

Porphyria Diagnostics—Part 1: A Brief Overview of the Porphyrias

2015

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“…5 There is also a form of familial PCT called type III, in which a family history of PCT is observed, but subnormal URO-D activity is restricted to the liver. 6,7 Moreover, URO-D mutations in homozygosis or in compound heterozygosis, cause a more severe form of hereditary PCT, called hepatoerythropoietic porphyria, which has an early clinical onset with a markedly reduced URO-D activity in all tissues (3%-27% of normal in erythrocytes) and a phenotype similar to that of congenital erythropoietic porphyria. 1,8 The clinical manifestation of PCT is frequently associated with exposure to precipitating agents, including polyhalogenated aromatic hydrocarbons (such as hexachlorobenzene and dioxin), alcohol abuse, estrogen ingestion, iron overload, and infection with hepatitis C virus (HCV) and, less frequently, hepatitis B virus (HBV).…”

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confidence: 99%

The role of inherited and acquired factors in the development of porphyria cutanea tarda in the Argentinean population

Méndez

Rossetti

Batlle

et al. 2005

Journal of the American Academy of Dermatology

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“…These extrinsic factors appear to be im-31/1/41319 portant in both type 1 PCT, the sporadic form associated with a 50% level of URO-D in the liver only, and type 2 PCT, the rare familial form in which the enzymatic defect is present in other tissues (2). In the past the two forms were differentiated on the basis of erythrocyte URO-D assay, but more recently several families with normal erythrocyte URO-D levels have been described, indicating heterogeneity of the familial form (3,4). Sporadic PCT is relatively common; it is not clear whether it is an inherited or an acquired disorder (51, and it has been hypothesized to be an idiosyncratic form that may accompany common liver disorders such as alcoholor drug-associated liver disease.…”

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Hepatitis C Virus and Porphyria Cutanea Tarda: Evidence of A Strong Association

et al. 1992

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Porphyria cutanea tarda in human beings is believed to be due to reduced hepatic uroporphyrinogen decarboxylase activity. However, extrinsic factors such as alcohol abuse and drug intake are required for clinical manifestation of the disease. In addition to typical cutaneous lesions, patients with porphyria cutanea tarda usually have chronic liver disease and moderate iron overload. Of 74 Italian patients with porphyria cutanea tarda, hepatitis C virus antibodies were detected in 76% by enzyme-linked immunoassay and in 82% by recombinant immunoblot assay. Viral genome, studied with nested polymerase chain reaction, was found in the sera of 49 subjects--47 positive and 2 indeterminate on recombinant immunoblot assay. Five percent of the patients were HBsAg-positive, and about 40% had had past hepatitis B contacts. Alcohol abuse was present in 38%. Liver biopsies performed in 42 patients showed chronic persistent hepatitis in 7 patients, chronic active hepatitis in 22 patients, fibrosis in three patients and cirrhosis in 10 patients. Hepatitis C virus antibody was detected in 100% of patients with chronic active hepatitis and in about 80% of all other groups. Alcohol abuse was more frequent in patients with cirrhosis (80%) than in the other groups. In Italian patients with porphyria cutanea tarda, the prevalence of hepatitis C virus infection was very high, comparable to that in non-A, non-B hepatitis and high-risk patient groups. Hepatitis C virus is probably the main pathogenetic factor of the liver disease of patients with porphyria cutanea tarda.

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Familial Porphyria cutanea tarda with Normal Erythrocytic Urodecarboxylase: An Exception to the Rule?

Cited by 10 publications

References 5 publications

Porphyria Diagnostics—Part 1: A Brief Overview of the Porphyrias

Porphyria Diagnostics—Part 1: A Brief Overview of the Porphyrias

The role of inherited and acquired factors in the development of porphyria cutanea tarda in the Argentinean population

Hepatitis C Virus and Porphyria Cutanea Tarda: Evidence of A Strong Association

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