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Porphyria Cutanea Tarda

Ascorbic Acid Deficiency in Porphyria Cutanea Tarda

Porphyria cutanea tarda (POT), the most common form of porphyria, is manifested as skin photosensitivity caused by excess hepatic production of uroporphyrin and heptacarboxylporphyrin. In experimental animal models, ascorbic acid modulates chemically induced uroporphyrin accumulation, The purpose of this study was to determine whether ascorbic acid is decreased in the plasma of patients with PCT. Plasma was obtained after an overnight fast from 21 PCT patients, 16 of whom were infected with hepatitis C virus (HCV), and from a separate group of 9 patients with HCV infection but not PCT, Thirteen PCT patients were studied when they had active disease and 8 after treatment-induced remission. Plasma ascorbic acid was low (less than 23 mu mol/L) in 11 (85%) of the 13 untreated PCT patients and deficient (less than 11 mu mol/L) in 8 (62%), Two patients with normal ascorbic acid levels (45 and 62 mu mmol/L) had consumed multivitamins. In 2 patients with deficient ascorbic acid, plasma levels returned to normal after phlebotomy treatment, Of the 8 patients studied during remission, 4 had normal ascorbic acid values and 4 were deficient (5 to 8 mu mol/L). Plasma ascorbic acid values were normal for all patients who had HCV but no PCT, These data suggest that plasma ascorbic acid concentrations are commonly low in POT, but this decrease is unrelated to HCV infection, Ascorbic acid deficiency may be one of the factors that contributes to the pathogenesis of PCT.

Author: SINCLAIR PR, VET ADM MED CTR, WHITE RIVER JCT, VT 05009; Source: JOURNAL OF LABORATORY AND CLINICAL MEDICINE 1997 AUG;130(2):197-201

Porphyria Cutanea Tarda and Hepatitis C Viral Infection A Clinical and Virologic Study  

Arch Dermatol. 1995;131:801-804) Bernard Cribier, MD; Pascale Petiau, MD; Francoise Keller, MD; Carine Schmitt;Denis Vetter, MD; Ernest Heid, MD; Edouard Grosshans, MD

Background and Design: The role of hepatitis C virus (HCV) infection in porphyria cutanea tarda (PCT) is probable since the global HCV antibody prevalence among patients with PCT is about 70%. The purpose of this study was to evaluate the virologic characteristics in 12 patients with sporadic PCT and in one patient with familial PCT. Anti-HCV antibodies were detected by enzyme-linked immunosorbent assay and confirmed by recombinant immunoblot assay. Hepatitis B virus and antihuman immunodeficiency virus markers were also determined. The polymerase chain reaction was performed to detect the following: (1) both positive and negative HCV RNA strands, (2) HCV RNA titer, and (3) HCV RNA genotype. 
Results: Seven of the 12 patients with sporadic PCT were HCV positive, and the patient with familial PCT was HCV negative. The age at onset of PCT was significantly lower in HCV-positive patients than in HCV-negative patients. The HCV RNA was detected in all patients who had HCV antibodies, and the replicative intermediate of HCV was detected in three of them. The positive RNA titer ranged from 1:10 to 1:106. Four patients were infected by HCV genotype I, two by genotype II, and one patient was coinfected by type I and type II. Three of the seven HCV-positive patients also had HBV antibodies, but HBV DNA was never detected. All patients [were negative for the human immunodeficiency virus.
Conclusions: The HCV infection rate was high (58%) in this series, and all HCV-infected patients had HCV RNA, reflecting an active replication of the virus. The young age at onset of PCT suggests that HCV is a major triggering factor of PCT. Nevertheless, the clinical changes of PCT were not related to the virologic findings, suggesting an indirect role of HCV. Copyright 1995 American Medical 

Porphyria cutanea tarda. Don't forget to look at the urine.

Postgrad Med 1999 Apr Department of Internal Medicine, Northeastern Ohio Universities College of Medicine, Rootstown, USA. Author: Rich MW

Abstract: Diagnosis of porphyria cutanea tarda is usually fairly straightforward because of the characteristic clinical findings. Blisters and erosions develop acutely on sun-exposed skin, sometimes accompanied by hypertrichosis, abnormal pigmentation, and milia formation. Iron stores are usually elevated, and liver transaminases and blood glucose levels are often above normal as well. Gross examination of the urine can provide a valuable clue, since urine of porphyria cutanea tarda patients is red to brown in natural light and pink to red in fluorescent light. Biopsy of a bullous lesion is useful to rule out other diseases. Confirmation of porphyria cutanea tarda requires measurement of porphyrin levels in a 24-hour urine collection. Once the diagnosis is confirmed, it appears reasonable to screen all patients with porphyria cutanea tarda for hepatitis C and possibly B, but especially those less than 30 years old who have extremely high liver transaminase levels. Therapeutic measures for porphyria cutanea tarda include avoidance of exacerbating factors, especially ultraviolet light, ethanol, and certain medications. Phlebotomy or chloroquine therapy is reserved for patients in whom conservative measures fail.

Hepatitis C virus in patients with porphyria cutanea tarda: Relationship to HCV-genotypes

Abstract:
Porphyria cutanea tarda (PCT) is a rare metabolic disorder characterized by an abnormal porphyrin metabolism and typical cutaneous lesions. Recently a strong association between PCT and hepatitis C virus (HCV) has been proposed. Studies in south Europe have shown high prevalence (53 to 91%) of HCV markers in patients with PCT. We studied HCV genotypes in 72 subjects: 40 with PCT and 32 patients with chronic liver disease.

A high rate of HCV-RNA positive PCT patients (84%) was observed, reflecting an active HCV replication, the genotypes study showed a prevalence of genotype Ib in PCT patients (61.2%). These findings implicate HCV in the aetiology of PCT-associated liver disease suggesting that hepatitis C serological and virological testing could be indicated in all patients with PCT.

AUTHOR: Rivanera D, Lilli D, Griso D, Macri A, Mancini C; SOURCE: MICROBIOLOGICA 21: (4) 329-334 OCT 1998

Rev Med Chil 1998 Mar 126:3 245-50 Wolff C, Stella AM, Armas R, Parraguez A, Silva H, Batlle AM

Abstract
BACKGROUND: Porphyria cutanea tarda (PCT) is due to a partial defect of hepatic uroporphyrinogen decarboxylase (URO-D). In the hereditary form, both hepatic and erythrocytic enzymes are altered, whereas in the acquired form, only the hepatic enzyme fails. There is a high prevalence of hepatitis C virus infection in patients with PCT, specially in those without family history of the disease. AIM: To study erythrocytic URO-D activity in order to find out whether hepatitis C virus infection is associated to the acquired form of PCT or unveils an inactive hereditary form. PATIENTS AND METHODS: URO-D activity was measured in red blood cells of normal controls, hepatitis C virus carriers without symptoms of PCT and patients with PCT, with and without family history of the disease, with and without anti hepatitis C virus antibodies. RESULTS: URO-D activity was similar in normal controls, patients with chronic liver disease associated to hepatitis C virus, and in patients with PCT without family history of the disease with and without hepatitis C virus antibodies. URO-D activity was lower in patients with PCT and family history of the disease, with and without hepatitis C virus antibodies. CONCLUSIONS: PCT in patients with hepatitis C virus infection is due to an acquired alteration of hepatic URO-D. Hepatitis C virus does not modify erythrocytic URO-D. 

Int J Immunopharmacol 1999 Apr;21(4):253-61  Magy N, Cribier B, Schmitt C, Ellero B, Jaeck D, Boudjema K, Wolf P, Labouret N, Doffoel M, Kirn A, Stoll-Keller F

The risk factors for clinical recurrent hepatitis C in liver transplant recipients are not clearly defined. It has been suggested that the corticosteroids included in the treatments of patients undergoing allograft rejection might induce acute hepatitis by increasing HCV replication. In this study we investigated the effects of corticosteroid boluses on HCV viremia in liver allograft recipients treated for acute rejection. Since we had previously developed a model of HCV replication in peripheral blood mononuclear cells (PBMC) in vitro, we also studied the effects of corticosteroids on HCV replication in vitro. A transient peak of HCV viremia was observed in patients treated with corticosteroid boluses for an acute allograft rejection. In the cell cultures, corticosteroids induced an increase of the total amount of viral RNA detectable. Our results demonstrate that corticosteroids induce an increase of hepatitis C virus replication in vivo and in vitro.

Hepatitis C virus infection: a possible promoting agent in porphyria cutanea tarda.

Ital J Gastroenterol 1996 Dec Clinic of Gastroenterology, St. Ivan Rilski's University Hospital, Sofia, Bulgaria

Abstract: The study aimed to differentiate the factors triggering porphyria cutanea tarda, paying special attention to the presumed role of hepatitis C virus infection. In a representative Bulgarian contingent, HCV -antibodies were identified using ELISA II and immunoblot. Seropositivity was significantly higher (p < 0.01) in the sporadic form (36 out of 57 patients; 63.2%) compared with the familiar form (4 out of 20 subjects; 20%). Alcohol abuse was the most common factor preceding the expression of open porphyria both in the sporadic and the familiar forms. In 10 sporadic cases, no precipitating factors were observed, except for the fact that they were anti-HCV positive. In another 2 anti-HCV positive patients, porphyria cutanea tarda was preceded by blood transfusions. Renewed consumption of alcohol after successful treatment was a common reason for relapse, but relapses were most frequent in anti-HCV positive patients (35 relapses in 12 patients), in whom other promoting factors were absent. Analysis of triggering factors shows that most probably hepatitis C virus infection could contribute to the expression of porphyria cutanea tarda and the association of both diseases is not coincidental. 

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