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Porphyria cutanea tarda: multiplicity of risk factors including HFE mutations, hepatitis C, and inherited uroporphyrinogen decarboxylase deficiency.
Dig Dis Sci. 2002 Feb; 47(2):419-26.DD

Abstract

The coexistence of factors considered to contribute to development of porphyria cutanea tarda was studied in 39 consecutive patients. Highly prevalent factors were alcohol intake in 79%, smoking in 86%, hepatitis C virus infection in 74%, estrogen use in 73% of 11 females, and at least one mutation in the HFE (hereditary hemochromatosis) gene in 65%. The C282Y mutation was found in 29%, H63D in 47%, and S65C in 0%. HFE genotypes included C282Y/C282Y in 9%, H63D/H63D in 9%, C282Y/H63D in 12%, C282Y/wild type in 9%, and H63D/wild type in 26%. Less prevalent were HIV infection in 15% (or 25% of those tested, N = 24) and erythrocyte uroporphyrinogen decarboxylase deficiency, which distinguishes familial (type 2) from "sporadic" (type 1) porphyria cutanea tarda, in 19%. Multiple contributing factors coexisted in both types 1 and 2, with 92% of all patients having three or more factors. These observations indicate that this porphyria is multifactorial in the individual patient, and therefore is seldom attributable to a single identifiable cause. Profiling for all potentially contributing factors is important for individualizing management.

Authors+Show Affiliations

Department of Preventive Medicine and Community Health, The University of Texas Medical Branch, Galveston 77555-1109, USA.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't
Research Support, U.S. Gov't, P.H.S.

Language

eng

PubMed ID

11855561

Citation

Egger, Norman G., et al. "Porphyria Cutanea Tarda: Multiplicity of Risk Factors Including HFE Mutations, Hepatitis C, and Inherited Uroporphyrinogen Decarboxylase Deficiency." Digestive Diseases and Sciences, vol. 47, no. 2, 2002, pp. 419-26.
Egger NG, Goeger DE, Payne DA, et al. Porphyria cutanea tarda: multiplicity of risk factors including HFE mutations, hepatitis C, and inherited uroporphyrinogen decarboxylase deficiency. Dig Dis Sci. 2002;47(2):419-26.
Egger, N. G., Goeger, D. E., Payne, D. A., Miskovsky, E. P., Weinman, S. A., & Anderson, K. E. (2002). Porphyria cutanea tarda: multiplicity of risk factors including HFE mutations, hepatitis C, and inherited uroporphyrinogen decarboxylase deficiency. Digestive Diseases and Sciences, 47(2), 419-26.
Egger NG, et al. Porphyria Cutanea Tarda: Multiplicity of Risk Factors Including HFE Mutations, Hepatitis C, and Inherited Uroporphyrinogen Decarboxylase Deficiency. Dig Dis Sci. 2002;47(2):419-26. PubMed PMID: 11855561.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Porphyria cutanea tarda: multiplicity of risk factors including HFE mutations, hepatitis C, and inherited uroporphyrinogen decarboxylase deficiency. AU - Egger,Norman G, AU - Goeger,Douglas E, AU - Payne,Deborah A, AU - Miskovsky,Emil P, AU - Weinman,Steven A, AU - Anderson,Karl E, PY - 2002/2/22/pubmed PY - 2002/3/7/medline PY - 2002/2/22/entrez SP - 419 EP - 26 JF - Digestive diseases and sciences JO - Dig. Dis. Sci. VL - 47 IS - 2 N2 - The coexistence of factors considered to contribute to development of porphyria cutanea tarda was studied in 39 consecutive patients. Highly prevalent factors were alcohol intake in 79%, smoking in 86%, hepatitis C virus infection in 74%, estrogen use in 73% of 11 females, and at least one mutation in the HFE (hereditary hemochromatosis) gene in 65%. The C282Y mutation was found in 29%, H63D in 47%, and S65C in 0%. HFE genotypes included C282Y/C282Y in 9%, H63D/H63D in 9%, C282Y/H63D in 12%, C282Y/wild type in 9%, and H63D/wild type in 26%. Less prevalent were HIV infection in 15% (or 25% of those tested, N = 24) and erythrocyte uroporphyrinogen decarboxylase deficiency, which distinguishes familial (type 2) from "sporadic" (type 1) porphyria cutanea tarda, in 19%. Multiple contributing factors coexisted in both types 1 and 2, with 92% of all patients having three or more factors. These observations indicate that this porphyria is multifactorial in the individual patient, and therefore is seldom attributable to a single identifiable cause. Profiling for all potentially contributing factors is important for individualizing management. SN - 0163-2116 UR - https://www.unboundmedicine.com/medline/citation/11855561/Porphyria_cutanea_tarda:_multiplicity_of_risk_factors_including_HFE_mutations_hepatitis_C_and_inherited_uroporphyrinogen_decarboxylase_deficiency_ L2 - http://ovidsp.ovid.com/ovidweb.cgi?T=JS&PAGE=linkout&SEARCH=11855561.ui DB - PRIME DP - Unbound Medicine ER -