Literature DB >> 19948245

Associations among behavior-related susceptibility factors in porphyria cutanea tarda.

Sajid Jalil1, James J Grady, Chul Lee, Karl E Anderson.   

Abstract

BACKGROUND & AIMS: Porphyria cutanea tarda (PCT) is the most common of the human porphyrias and results from an acquired deficiency of hepatic uroporphyrinogen decarboxylase (UROD). Some susceptibility factors have been identified; we examined associations among multiple factors in a large cohort of patients.
METHODS: Multiple known or suspected susceptibility factors and demographic and clinical features of 143 patients (mean age 52 years, 66% male, 88% Caucasian) with documented PCT (mean onset at 41 +/- 8.8 years) were tabulated; associations were examined by contingency tables, classification and regression tree (CART) analysis, and logistic regression.
RESULTS: The most common susceptibility factors for PCT were ethanol use (87%), smoking (81%), chronic hepatitis C virus (HCV) infection (69%), and HFE mutations (53%; 6% C282Y/C282Y and 8% C282Y/H63D). Of those who underwent hepatic biopsy or ultrasound, 56% had evidence of hepatic steatosis. Of those with PCT, 66% of females took estrogen, 8% were diabetic, 13% had human immunodeficiency virus (HIV) infection, and 17% had inherited uroporphyrinogen decarboxylase (UROD) deficiency (determined by low erythrocyte UROD activity). Three or more susceptibility factors were identified in 70% of patients. HCV infection in patients with PCT was significantly associated with other behavior-related factors such as ethanol use (odds ratio [OR], 6.3) and smoking (OR, 11.9).
CONCLUSIONS: Susceptibility factors for PCT were similar to previous studies; most patients had 3 or more susceptibility factors. Associations between PCT and HCV, ethanol or smoking could be accounted for by a history of multiple substance abuse; other factors are distributed more randomly among patients. Copyright 2010 AGA Institute. Published by Elsevier Inc. All rights reserved.

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Year:  2009        PMID: 19948245      PMCID: PMC2834813          DOI: 10.1016/j.cgh.2009.11.017

Source DB:  PubMed          Journal:  Clin Gastroenterol Hepatol        ISSN: 1542-3565            Impact factor:   11.382


  32 in total

1.  C282Y and H63D mutations in the HFE gene are not associated with porphyria cutanea tarda in Bulgaria.

Authors:  A Ivanova; N von Ahsen; D Adjarov; Z Krastev; M Oellerich; E Wieland
Journal:  Hepatology       Date:  1999-12       Impact factor: 17.425

Review 2.  Defining nonalcoholic fatty liver disease: implications for epidemiologic studies.

Authors:  Jeanne M Clark; Anna Mae Diehl
Journal:  Gastroenterology       Date:  2003-01       Impact factor: 22.682

3.  Prevalence of C282Y and H63D mutations in the hemochromatosis (HFE) gene in the United States.

Authors:  K K Steinberg; M E Cogswell; J C Chang; S P Caudill; G M McQuillan; B A Bowman; L M Grummer-Strawn; E J Sampson; M J Khoury; M L Gallagher
Journal:  JAMA       Date:  2001-05-02       Impact factor: 56.272

4.  Porphyria cutanea tarda in Brazilian patients: association with hemochromatosis C282Y mutation and hepatitis C virus infection.

Authors:  A L Martinelli; M A Zago; A M Roselino; A B Filho; M G Villanova; M Secaf; M H Tavella; L N Ramalho; S Zucoloto; R F Franco
Journal:  Am J Gastroenterol       Date:  2000-12       Impact factor: 10.864

5.  Hemochromatosis genes and other factors contributing to the pathogenesis of porphyria cutanea tarda.

Authors:  Z J Bulaj; J D Phillips; R S Ajioka; M R Franklin; L M Griffen; D J Guinee; C Q Edwards; J P Kushner
Journal:  Blood       Date:  2000-03-01       Impact factor: 22.113

6.  C282Y and H63D mutation of the hemochromatosis gene in German porphyria cutanea tarda patients.

Authors:  A Tannapfel; U Stölzel; E Köstler; S Melz; M Richter; V Keim; D Schuppan; C Wittekind
Journal:  Virchows Arch       Date:  2001-07       Impact factor: 4.064

7.  Protection of the Cyp1a2(-/-) null mouse against uroporphyria and hepatic injury following exposure to 2,3,7,8-tetrachlorodibenzo-p-dioxin.

Authors:  A G Smith; B Clothier; P Carthew; N L Childs; P R Sinclair; D W Nebert; T P Dalton
Journal:  Toxicol Appl Pharmacol       Date:  2001-06-01       Impact factor: 4.219

8.  Porphyria cutanea tarda: multiplicity of risk factors including HFE mutations, hepatitis C, and inherited uroporphyrinogen decarboxylase deficiency.

Authors:  Norman G Egger; Douglas E Goeger; Deborah A Payne; Emil P Miskovsky; Steven A Weinman; Karl E Anderson
Journal:  Dig Dis Sci       Date:  2002-02       Impact factor: 3.199

9.  Extrahepatic manifestations of hepatitis C among United States male veterans.

Authors:  Hashem B El-Serag; Howard Hampel; Christine Yeh; Linda Rabeneck
Journal:  Hepatology       Date:  2002-12       Impact factor: 17.425

10.  A porphomethene inhibitor of uroporphyrinogen decarboxylase causes porphyria cutanea tarda.

Authors:  John D Phillips; Hector A Bergonia; Christopher A Reilly; Michael R Franklin; James P Kushner
Journal:  Proc Natl Acad Sci U S A       Date:  2007-03-09       Impact factor: 11.205

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  14 in total

Review 1.  Heme biosynthesis and the porphyrias.

Authors:  John D Phillips
Journal:  Mol Genet Metab       Date:  2019-04-22       Impact factor: 4.797

2.  Geographic prevalence variation and phenotype penetrance in porphyria: insights from a Chinese population database.

Authors:  Pei Li; Dhiman Maitra; Ning Kuo; Herbert L Bonkovsky; M Bishr Omary
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Review 3.  Hepatic porphyria: A narrative review.

Authors:  Sumant Arora; Steven Young; Sudha Kodali; Ashwani K Singal
Journal:  Indian J Gastroenterol       Date:  2016-10-31

Review 4.  Porphyria Diagnostics-Part 1: A Brief Overview of the Porphyrias.

Authors:  Vaithamanithi-Mudumbai Sadagopa Ramanujam; Karl Elmo Anderson
Journal:  Curr Protoc Hum Genet       Date:  2015-07-01

5.  Sun, iron, alcohol and intrinsic liver disease: a recipe for failure.

Authors:  Michael J Plakke; Sarah Haseltine Van Tassel; Anthony A Donato
Journal:  BMJ Case Rep       Date:  2013-07-02

Review 6.  Hepatitis C, porphyria cutanea tarda and liver iron: an update.

Authors:  F Ryan Caballes; Hossein Sendi; Herbert L Bonkovsky
Journal:  Liver Int       Date:  2012-04-17       Impact factor: 5.828

7.  CYP1A2*1F and GSTM1 alleles are associated with susceptibility to porphyria cutanea tarda.

Authors:  Jeffrey K Wickliffe; Sherif Z Abdel-Rahman; Chul Lee; Csilla Kormos-Hallberg; Gagan Sood; Catherine M Rondelli; James J Grady; Robert J Desnick; Karl E Anderson
Journal:  Mol Med       Date:  2010-10-15       Impact factor: 6.354

8.  Hepatitis C Treatment in Patients With Porphyria Cutanea Tarda.

Authors:  Ashwani K Singal; Krishna V R Venkata; Sarat Jampana; Fakhar-Ul Islam; Karl E Anderson
Journal:  Am J Med Sci       Date:  2017-03-08       Impact factor: 2.378

9.  Low-dose hydroxychloroquine is as effective as phlebotomy in treatment of patients with porphyria cutanea tarda.

Authors:  Ashwani K Singal; Csilla Kormos-Hallberg; Chul Lee; Vaithamanithi M Sadagoparamanujam; James J Grady; Daniel H Freeman; Karl E Anderson
Journal:  Clin Gastroenterol Hepatol       Date:  2012-09-14       Impact factor: 11.382

10.  Disappearance of multiple hyperechoic liver nodules in sporadic porphyria cutanea tarda after treatment with ledipasvir/sofosbuvir for hepatitis C.

Authors:  Kazuhide Takata; Satoshi Shakado; Keiko Sakamoto; Hiromi Fukuda; Ryo Yamauchi; Sho Fukuda; Hideo Kunimoto; Kaoru Umeda; Takashi Tanaka; Keiji Yokoyama; Daisuke Morihara; Yasuaki Takeyama; Makoto Irie; Shotaro Sakisaka
Journal:  Clin J Gastroenterol       Date:  2017-09-07
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